DDG2P (Version 3.2)

The latest signed off version for the GMS is v3.1. The current version, shown here, may differ from the signed-off version.

Description

This panel is a component of super panel 'Paediatric disorders'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 3.1: https://panelapp.genomicsengland.co.uk/api/v1/panels/484/?version=3.1) was signed off as part of 'Paediatric disorders' super panel under NHS Genomic Medicine Service governance on (23/06/2022).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated version number.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel contains DD gene-disease pairs and attributes downloaded from Gene2Phenotype up to and including November 5th 2019. More information about Gene2Phenotype (G2P) can be found at https://www.ebi.ac.uk/gene2phenotype, and in the following publication:
Wright et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17. PMID:25529582

The DDG2P confidence levels were automatically adapted to PanelApp ratings and Expert Review Sources as follows:
Confirmed: Green rating
Both RD and IF: Green rating (formerly 'Both DD and IF')
Child IF: Amber rating
Probable: Amber rating
Possible: Red rating

Additional Notes and Considerations for gene ratings:
- Where one gene was associated with multiple DD-G2P disorders with different confidence levels, the highest DDG2P Disease confidence was selected, except when one of the DDG2P ratings was 'child IF', where an Amber rating was selected.
- Where one gene was associated with multiple DD-G2P disorders with different confidence levels, the Mode of inheritance reflects the disorder with the highest rating.
- DDG2P confidence levels are recorded as Comments within each gene.

Panel Activity

14 reviewers

Tracy Lester (Genetics laboratory, Oxford UK)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Lu Raymond (university of cambridge )

Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
alisdair mcneill (Sheffield childrens hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Rebecca Foulger (Genomics England curator)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Kate Downes (Uni of Cambridge / CUH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Anna de Burca (Genomics England Curator)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Dmitrijs Rots (RadboudUMC)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

1922 Entities

1922 reviewed, 1194 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1922 Entitiess
Green Green List (high evidence)	AAAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 Tags
Green Green List (high evidence)	ABCB11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847 Tags
Green Green List (high evidence)	ABCB7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 Tags
Green Green List (high evidence)	ABCC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473 Tags
Green Green List (high evidence)	ABCC9	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 Tags
Green Green List (high evidence)	ABCD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY, X-LINKED 300100 Tags
Green Green List (high evidence)	ABHD5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHANARIN-DORFMAN SYNDROME 275630 Tags
Green Green List (high evidence)	ACAD9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126 Tags
Green Green List (high evidence)	ACADM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 Tags
Green Green List (high evidence)	ACADS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 Tags
Green Green List (high evidence)	ACADVL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475 Tags
Green Green List (high evidence)	ACAN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813 SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361 Tags
Green Green List (high evidence)	ACAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPHA-METHYLACETOACETIC ACIDURIA 203750 Tags
Green Green List (high evidence)	ACOX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470 Tags
Green Green List (high evidence)	ACP5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944 Tags
Green Green List (high evidence)	ACTA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788 MOYAMOYA DISEASE 5 614042 Tags
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME ACTB Haploinsufficiency syndtome Tags watchlist
Green Green List (high evidence)	ACTG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARAITSER-WINTER SYNDROME Tags
Green Green List (high evidence)	ACTL6B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468 INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 Tags watchlist
Green Green List (high evidence)	ACY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMINOACYLASE-1 DEFICIENCY 609924 Tags
Green Green List (high evidence)	ADA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENOSINE DEAMINASE DEFICIENCY 102700 Tags
Green Green List (high evidence)	ADAR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010 DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 Tags
Green Green List (high evidence)	ADGRG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYMICROGYRIA 606854 Tags
Green Green List (high evidence)	ADGRG6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503 Tags
Green Green List (high evidence)	ADNP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 Tags
Green Green List (high evidence)	ADSL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADENYLOSUCCINASE DEFICIENCY 103050 Tags
Green Green List (high evidence)	AFF2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 Tags
Green Green List (high evidence)	AFF4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME Tags
Green Green List (high evidence)	AGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPARTYLGLUCOSAMINURIA 208400 Tags
Green Green List (high evidence)	AGK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SENGERS SYNDROME 212350 Tags
Green Green List (high evidence)	AGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE III 232400 Tags
Green Green List (high evidence)	AGPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 Tags
Green Green List (high evidence)	AGXT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPEROXALURIA, PRIMARY, TYPE 1 259900 Tags
Green Green List (high evidence)	AHDC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XIA-GIBBS SYNDROME 615829 Tags
Green Green List (high evidence)	AHI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	AIPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 4 604393 Tags
Green Green List (high evidence)	AIRE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300 Tags
Green Green List (high evidence)	AK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETICULAR DYSGENESIS 267500 Tags
Green Green List (high evidence)	AKR1D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555 Tags
Green Green List (high evidence)	AKT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROTEUS SYNDROME 176920 Tags mosaicism
Green Green List (high evidence)	ALAD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACUTE HEPATIC PORPHYRIA 612740 Tags
Green Green List (high evidence)	ALDH18A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162 CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603 MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 Tags
Green Green List (high evidence)	ALDH1A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANOPHTHALMIA/MICROPHTHALMIA Tags
Green Green List (high evidence)	ALDH3A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SJOEGREN-LARSSON SYNDROME 270200 Tags
Green Green List (high evidence)	ALDH4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPROLINEMIA TYPE 2 239510 Tags
Green Green List (high evidence)	ALDH5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980 Tags
Green Green List (high evidence)	ALDH7A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRIDOXINE-DEPENDENT EPILEPSY 266100 Tags
Green Green List (high evidence)	ALDOA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE XII 611881 Tags
Green Green List (high evidence)	ALDOB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY FRUCTOSE INTOLERANCE 229600 Tags
Green Green List (high evidence)	ALG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG1-CDG 300141 Tags
Green Green List (high evidence)	ALG12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143 Tags
Green Green List (high evidence)	ALG3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG3-CDG 237128 Tags
Green Green List (high evidence)	ALG6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALG6-CDG 237124 Tags
Green Green List (high evidence)	ALG8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih OMIM:608104 ALG8-CDG MONDO:0011969 Tags
Green Green List (high evidence)	ALMS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALSTROM SYNDROME 203800 Tags
Green Green List (high evidence)	ALPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATASIA 241500 Tags
Green Green List (high evidence)	ALS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALS2-RELATED DISORDERS 240656 Tags
Green Green List (high evidence)	ALX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTONASAL DYSPLASIA TYPE 3 136760 Tags
Green Green List (high evidence)	ALX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRONTONASAL DYSPLASIA TYPE 1 136760 Tags
Green Green List (high evidence)	ALX4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARIETAL FORAMINA 2 609597 FRONTONASAL DYSPLASIA 2 613451 Tags
Green Green List (high evidence)	AMER1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 Tags
Green Green List (high evidence)	AMPD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA Tags
Green Green List (high evidence)	AMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	ANAPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rothmund-Thomson Syndrome Type 1 Tags
Green Green List (high evidence)	ANKH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDROCALCINOSIS 2 118600 CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000 Tags
Green Green List (high evidence)	ANKRD11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KBG SYNDROME 148050 Tags
Green Green List (high evidence)	ANO5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GNATHODIAPHYSEAL DYSPLASIA 166260 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307 MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319 Tags watchlist
Green Green List (high evidence)	ANTXR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAPO syndrome, OMIM:230740 Tags
Green Green List (high evidence)	AP1S2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 59 300630 Tags
Green Green List (high evidence)	AP4E1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744 Tags
Green Green List (high evidence)	APOPT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags new-gene-name
Green Green List (high evidence)	APTX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 Tags
Green Green List (high evidence)	AR	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANDROGEN INSENSITIVITY SYNDROME 300068 SPINAL AND BULBAR MUSCULAR ATROPHY 313200 Tags
Green Green List (high evidence)	ARG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININEMIA 207800 Tags
Green Green List (high evidence)	ARID1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN-SIRIS SYNDROME 135900 Tags
Green Green List (high evidence)	ARID1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900 COFFIN SIRIS SYNDROME 135900 Tags
Green Green List (high evidence)	ARL6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA TYPE 55 613575 BARDET-BIEDL SYNDROME TYPE 3 209900 Tags
Green Green List (high evidence)	ARMC4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 23 615451 Tags new-gene-name
Green Green List (high evidence)	ARMC9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert syndrome 30 Tags
Green Green List (high evidence)	ARSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARYLSULFATASE A DEFICIENCY 250100 Tags
Green Green List (high evidence)	ARSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 6 253200 Tags
Green Green List (high evidence)	ARSE	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 Tags new-gene-name
Green Green List (high evidence)	ARX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED ARX-RELATED 300419 AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004 LISSENCEPHALY X-LINKED TYPE 2 300215 EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350 PARTINGTON SYNDROME 309510 Tags
Green Green List (high evidence)	ASAH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FARBER LIPOGRANULOMATOSIS 228000 SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 Tags
Green Green List (high evidence)	ASL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININOSUCCINATE LYASE DEFICIENCY 207900 Tags
Green Green List (high evidence)	ASPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CANAVAN DISEASE 271900 Tags
Green Green List (high evidence)	ASPM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 Tags
Green Green List (high evidence)	ASS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CITRULLINEMIA TYPE I 615700 Tags
Green Green List (high evidence)	ASXL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOHRING-OPITZ SYNDROME 605039 Tags
Green Green List (high evidence)	ATAD3A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy Tags Q3_21_MOI
Green Green List (high evidence)	ATIC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICA-RIBOSURIA 608688 Tags
Green Green List (high evidence)	ATM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA-TELANGIECTASIA 208900 Tags
Green Green List (high evidence)	ATP13A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARKINSON DISEASE 9 606693 Tags
Green Green List (high evidence)	ATP1A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAPID-ONSET DYSTONIA-PARKINSONISM 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 Tags
Green Green List (high evidence)	ATP6V1B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 Tags
Green Green List (high evidence)	ATP7A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489 OCCIPITAL HORN SYNDROME 304150 MENKES DISEASE 309400 Tags
Green Green List (high evidence)	ATP8B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600 Tags
Green Green List (high evidence)	ATRX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580 ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 Tags
Green Green List (high evidence)	AUH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950 Tags
Green Green List (high evidence)	AUTS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	B3GALT6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640 EHLERS-DANLOS SYNDROME 130070 Tags
Green Green List (high evidence)	B4GALT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070 Tags
Green Green List (high evidence)	BBS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Bardet-Biedl syndrome 1 OMIM:209900 Bardet-Biedl syndrome 1 MONDO:0008854 Tags
Green Green List (high evidence)	BBS10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 10 209900 Tags
Green Green List (high evidence)	BBS12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 12 209900 Tags
Green Green List (high evidence)	BBS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 2 209900 Tags
Green Green List (high evidence)	BBS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 4 209900 Tags
Green Green List (high evidence)	BBS5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 5 209900 Tags
Green Green List (high evidence)	BBS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 7 209900 Tags
Green Green List (high evidence)	BBS9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 9 209900 Tags
Green Green List (high evidence)	BCAP31	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS Tags
Green Green List (high evidence)	BCKDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASE 248600 Tags
Green Green List (high evidence)	BCKDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASE 248600 Tags
Green Green List (high evidence)	BCL11A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	BCOR	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 2 300166 Tags
Green Green List (high evidence)	BCS1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GRACILE SYNDROME 603358 Tags
Green Green List (high evidence)	BFSP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 Tags
Green Green List (high evidence)	BGN	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe syndromic form of thoracic aortic aneurysm & dissection X-Linked Spondyloepimetaphyseal Dysplasia Tags watchlist
Green Green List (high evidence)	BHLHA9	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPLIT HAND AND FOOT MALFORMATION 220600 MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 Tags
Green Green List (high evidence)	BICD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE Tags
Green Green List (high evidence)	BIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRONUCLEAR MYOPATHY 2 255200 Tags
Green Green List (high evidence)	BLM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLOOM SYNDROME 210900 Tags
Green Green List (high evidence)	BMP4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 6 607932 OROFACIAL CLEFT 11 600625 Tags
Green Green List (high evidence)	BMPER	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIAPHANOSPONDYLODYSOSTOSIS 608022 Tags
Green Green List (high evidence)	BMPR1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE A2 112600 Tags
Green Green List (high evidence)	BNC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital Lower Urinary Tract Obstruction Tags
Green Green List (high evidence)	BRAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEOPARD SYNDROME TYPE 3 613707 NOONAN SYNDROME TYPE 7 613706 CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	BRCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	BRCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 Tags
Green Green List (high evidence)	BRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054 Tags
Green Green List (high evidence)	BRPF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRPF1 associated syndromic intellectual disability with ptosis Tags
Green Green List (high evidence)	BRWD3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 93 300659 Tags
Green Green List (high evidence)	BSND	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARTTER SYNDROME TYPE 4A 602522 Tags
Green Green List (high evidence)	BTD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BIOTINIDASE DEFICIENCY 253260 Tags
Green Green List (high evidence)	BUB1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 Tags
Green Green List (high evidence)	C11orf70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags gene-checked new-gene-name
Green Green List (high evidence)	C12orf65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559 Tags new-gene-name
Green Green List (high evidence)	C21orf2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Axial Spondylometaphyseal Dysplasia Tags new-gene-name
Green Green List (high evidence)	C2orf71	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 54 613428 Tags new-gene-name
Green Green List (high evidence)	C4orf26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMYELOGENESIS 614832 Tags new-gene-name
Green Green List (high evidence)	C5orf42	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags new-gene-name
Green Green List (high evidence)	C8orf37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONE-ROD DYSTROPHY 16 614500 Tags new-gene-name
Green Green List (high evidence)	CA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 Tags
Green Green List (high evidence)	CA8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227 Tags
Green Green List (high evidence)	CACNA1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TIMOTHY SYNDROME 601005 Tags
Green Green List (high evidence)	CACNA1E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia Tags watchlist
Green Green List (high evidence)	CAD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Uridine-responsive epileptic encephalopathy Tags
Green Green List (high evidence)	CASK	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED CASK-RELATED 300749 FG SYNDROME TYPE 4 300422 MRX WITH/WITHOUT NYSTAGMUS 300749 Tags
Green Green List (high evidence)	CBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 Tags
Green Green List (high evidence)	CBS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200 Tags
Green Green List (high evidence)	CC2D1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443 Tags
Green Green List (high evidence)	CC2D2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 9 612285 COACH SYNDROME 216360 MECKEL SYNDROME, TYPE 6 612284 Tags
Green Green List (high evidence)	CCBE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510 Tags
Green Green List (high evidence)	CCDC103	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCDC114	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags new-gene-name
Green Green List (high evidence)	CCDC115	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Disorder of Golgi homeostasis Tags
Green Green List (high evidence)	CCDC39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 14 613807 Tags
Green Green List (high evidence)	CCDC40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 15 613808 Tags
Green Green List (high evidence)	CCDC65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	CCND2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 Tags
Green Green List (high evidence)	CCNO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 29 615872 Tags
Green Green List (high evidence)	CDC45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Meier-Gorlin Syndrome and Craniosynostosis Tags
Green Green List (high evidence)	CDC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 5 613805 Tags
Green Green List (high evidence)	CDH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Blepharo-cheiro-dontic syndrome Tags
Green Green List (high evidence)	CDH23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes USHER SYNDROME TYPE 1D 601067 DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386 Tags
Green Green List (high evidence)	CDH3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EEM SYNDROME 225280 HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 Tags
Green Green List (high evidence)	CDK13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green Green List (high evidence)	CDK8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CDKL5	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 Tags
Green Green List (high evidence)	CDKN1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 IMAGe Syndrome Tags
Green Green List (high evidence)	CDON	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 11 614226 Tags
Green Green List (high evidence)	CDT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 4 613804 Tags
Green Green List (high evidence)	CENPJ	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SECKEL SYNDROME TYPE 4 613676 MICROCEPHALY PRIMARY TYPE 6 608393 Tags
Green Green List (high evidence)	CEP104	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Joubert syndrome 25, 616781 Tags
Green Green List (high evidence)	CEP152	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 4 604321 SECKEL SYNDROME TYPE 5 613823 Tags
Green Green List (high evidence)	CEP290	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 14 209900 LEBER CONGENITAL AMAUROSIS TYPE 10 611755 JOUBERT SYNDROME TYPE 5 610188 SENIOR-LOKEN SYNDROME TYPE 6 610189 MECKEL SYNDROME TYPE 4 611134 Tags
Green Green List (high evidence)	CEP41	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 15 614464 Tags
Green Green List (high evidence)	CEP57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114 Tags
Green Green List (high evidence)	CEP83	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHAMP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CHD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	CHD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease Tags
Green Green List (high evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHARGE SYNDROME 214800 IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 KALLMANN SYNDROME TYPE 5 612370 Tags
Green Green List (high evidence)	CHM	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOROIDEREMIA 303100 Tags
Green Green List (high evidence)	CHRDL1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOCORNEA, X-LINKED 309300 Tags
Green Green List (high evidence)	CHRNA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 Tags
Green Green List (high evidence)	CHRNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 Tags
Green Green List (high evidence)	CHST14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 Tags
Green Green List (high evidence)	CHST3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095 Tags
Green Green List (high evidence)	CHSY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282 Tags
Green Green List (high evidence)	CHUK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCOON SYNDROME 613630 Tags
Green Green List (high evidence)	CIB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSYNDROMIC DEAFNESS DFNB48 609439 USHER SYNDROME TYPE 1J 614869 Tags
Green Green List (high evidence)	CISD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WOLFRAM SYNDROME TYPE 2 604928 Tags
Green Green List (high evidence)	CKAP2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440 Tags
Green Green List (high evidence)	CLCN7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLCN7-RELATED OSTEOPETROSIS 611490 Tags
Green Green List (high evidence)	CLDN19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 Tags
Green Green List (high evidence)	CLN3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 Tags
Green Green List (high evidence)	CLN5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 5 OMIM:256731 neuronal ceroid lipofuscinosis 5 MONDO:0009745 Tags
Green Green List (high evidence)	CLN6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET 204300 CEROID LIPOFUSCINOSIS, NEURONAL, 6 601780 Tags
Green Green List (high evidence)	CLN8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003 NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143 Tags
Green Green List (high evidence)	CLPB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 Tags
Green Green List (high evidence)	CNOT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CNOT3 syndrome Tags
Green Green List (high evidence)	CNTNAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042 Tags
Green Green List (high evidence)	COASY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION WITH BRAIN IRON ACCUMULATION Tags
Green Green List (high evidence)	COG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG1-CDG 300197 Tags
Green Green List (high evidence)	COG4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG4-CDG 319493 Saul-Wilson syndrome 618150 Tags watchlist
Green Green List (high evidence)	COG7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG7-CDG 300171 Tags
Green Green List (high evidence)	COG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COG8-CDG 300204 Tags
Green Green List (high evidence)	COL10A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 Tags
Green Green List (high evidence)	COL11A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STICKLER SYNDROME, TYPE II 604841 FIBROCHONDROGENESIS 228520 Tags
Green Green List (high evidence)	COL11A2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEISSENBACHER-ZWEYMUELLER SYNDROME 184840 AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150 DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868 STICKLER SYNDROME TYPE 3 184840 DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 Tags
Green Green List (high evidence)	COL18A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KNOBLOCH SYNDROME TYPE I 267750 Tags
Green Green List (high evidence)	COL1A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CAFFEY DISEASE 114000 OSTEOGENESIS IMPERFECTA TYPE IIA 166210 OSTEOGENESIS IMPERFECTA TYPE III 259420 COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210 EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060 OSTEOGENESIS IMPERFECTA TYPE I 166200 EHLERS-DANLOS SYNDROME TYPE VIIA 319158 Tags
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHONDROGENESIS TYPE 2 200610 PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210 SPONDYLOPERIPHERAL DYSPLASIA 271700 PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805 SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900 RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508 KNIEST DYSPLASIA 156550 STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 Tags watchlist
Green Green List (high evidence)	COL4A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PORENCEPHALY 1 175780 Tags
Green Green List (high evidence)	COL4A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PORENCEPHALY 2 614483 Tags
Green Green List (high evidence)	COL4A3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 Tags
Green Green List (high evidence)	COL4A3BP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags new-gene-name
Green Green List (high evidence)	COL4A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 Tags
Green Green List (high evidence)	COL6A1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COL6A1 associated myopathy Tags
Green Green List (high evidence)	COL6A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA 27 616411 ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 Tags
Green Green List (high evidence)	COL9A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STICKLER SYNDROME TYPE 4 614134 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 Tags
Green Green List (high evidence)	COL9A2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204 STICKLER SYNDROME, TYPE V 614284 Tags
Green Green List (high evidence)	COL9A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969 Stickler syndrome Tags watchlist
Green Green List (high evidence)	COLEC11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC SYNDROME 2 265050 Tags
Green Green List (high evidence)	COMP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 132400 PSEUDOACHONDROPLASIA, 177170 Tags watchlist
Green Green List (high evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COQ9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY 607426 Tags
Green Green List (high evidence)	COX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX6B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	COX7B	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 Tags
Green Green List (high evidence)	CPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300 Tags
Green Green List (high evidence)	CRB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105 LEBER CONGENITAL AMAUROSIS 8 613835 Tags
Green Green List (high evidence)	CRB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730 Tags
Green Green List (high evidence)	CREBBP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849 CREBBP intellectual disability without typical RTS features Tags
Green Green List (high evidence)	CRX	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 Tags
Green Green List (high evidence)	CRYAA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, NUCLEAR 123580 CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219 Tags
Green Green List (high evidence)	CRYBA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 Tags
Green Green List (high evidence)	CRYBA4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR TYPE 2 610425 MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4 610426 Tags watchlist
Green Green List (high evidence)	CRYBB1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT 17, MULTIPLE TYPES, MONOALLELIC CATARACT 17, MULTIPLE TYPES CATARACT 17, MULTIPLE TYPES, BIALLELIC Tags Q4_21_MOI watchlist
Green Green List (high evidence)	CRYBB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL, CERULEAN TYPE, 2 601547 CATARACT, COPPOCK-LIKE 604307 Tags
Green Green List (high evidence)	CRYBB3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 Tags
Green Green List (high evidence)	CRYGC	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT COPPOCK-LIKE 604307 Tags watchlist
Green Green List (high evidence)	CRYGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT CONGENITAL CERULEAN TYPE 3 115700 CATARACT AUTOSOMAL DOMINANT 604219 CATARACT CONGENITAL NON-NUCLEAR POLYMORPHIC AUTOSOMAL DOMINANT 123690 CATARACT CRYSTALLINE ACULEIFORM 115700 Tags watchlist
Green Green List (high evidence)	CSF1R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 Tags
Green Green List (high evidence)	CSNK2A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CSNK2A1 syndrome Tags
Green Green List (high evidence)	CSPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY Tags
Green Green List (high evidence)	CSTB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UNVERRICHT-LUNDBORG DISEASE 254800 Tags nucleotide-repeat-expansion
Green Green List (high evidence)	CTC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 Tags
Green Green List (high evidence)	CTCF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	CTDP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 Tags
Green Green List (high evidence)	CTNNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 Tags
Green Green List (high evidence)	CTNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750 CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900 CYSTINOSIS NEPHROPATHIC TYPE 219800 Tags
Green Green List (high evidence)	CTSA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSIALIDOSIS 256540 Tags
Green Green List (high evidence)	CTSD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 Tags
Green Green List (high evidence)	CTSK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYCNODYSOSTOSIS 265800 Tags
Green Green List (high evidence)	CUL4B	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 Tags
Green Green List (high evidence)	CUL7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-M SYNDROME 1 273750 Tags
Green Green List (high evidence)	CWC27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Retinitis pigmentosa, skeletal anomalies and intellectual disability Tags
Green Green List (high evidence)	CYC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 Tags
Green Green List (high evidence)	CYP1B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 Tags
Green Green List (high evidence)	CYP2U1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030 Tags
Green Green List (high evidence)	DAG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 Tags
Green Green List (high evidence)	DARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 Tags new-gene-name
Green Green List (high evidence)	DARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 Tags
Green Green List (high evidence)	DBT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAPLE SYRUP URINE DISEASEQ 248600 Tags
Green Green List (high evidence)	DCHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA Tags
Green Green List (high evidence)	DCX	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067 LISSENCEPHALY X-LINKED TYPE 1 300067 Tags
Green Green List (high evidence)	DDB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740 Tags
Green Green List (high evidence)	DDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 Tags
Green Green List (high evidence)	DDHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY SPASTIC PARAPLEGIA 615030 Tags
Green Green List (high evidence)	DDHD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 Tags
Green Green List (high evidence)	DDOST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507 Tags
Green Green List (high evidence)	DDR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 Tags
Green Green List (high evidence)	DDX11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARSAW BREAKAGE SYNDROME 613398 Tags
Green Green List (high evidence)	DDX3X	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DIABILITY Tags
Green Green List (high evidence)	DEAF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autism, intellectual disability, basal ganglia dysfunction and epilepsy MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 Tags watchlist
Green Green List (high evidence)	DEGS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404 Tags
Green Green List (high evidence)	DEPDC5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364 Tags
Green Green List (high evidence)	DHCR24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DESMOSTEROLOSIS 238860 Tags
Green Green List (high evidence)	DHCR7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-LEMLI-OPITZ SYNDROME 270400 Tags
Green Green List (high evidence)	DHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 Tags
Green Green List (high evidence)	DHODH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POSTAXIAL ACROFACIAL DYSOSTOSIS 263750 Tags
Green Green List (high evidence)	DIS3L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERLMAN SYNDROME 267000 Tags
Green Green List (high evidence)	DKC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, X-LINKED, 305000 DKC1-RELATED DYSKERATOSIS CONGENITA 314912 Tags
Green Green List (high evidence)	DLAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348 Tags
Green Green List (high evidence)	DLD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600 LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	DLG3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 90 300189 Tags
Green Green List (high evidence)	DLL3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300 Tags
Green Green List (high evidence)	DLL4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS-OLIVER SYNDROME 6 616589 Tags
Green Green List (high evidence)	DMD	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 BECKER MUSCULAR DYSTROPHY 300376 CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 Tags Skewed X-inactivation
Green Green List (high evidence)	DMP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATEMIC RICKETS, AR 241520 Tags
Green Green List (high evidence)	DMPK	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTROPHIA MYOTONICA TYPE 1 160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion Q3_21_MOI Q3_21_rating
Green Green List (high evidence)	DNAAF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINEASIA 606763 Tags
Green Green List (high evidence)	DNAAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSPLASIA Tags
Green Green List (high evidence)	DNAH9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Motile Cilia Defects and Situs Inversus Tags
Green Green List (high evidence)	DNMT3A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879 Microcephalic primordial dwarfism Tags watchlist
Green Green List (high evidence)	DNMT3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860 Tags
Green Green List (high evidence)	DOCK8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700 Tags
Green Green List (high evidence)	DOLK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	DPAGT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750 DPAGT1-CDG 300129 Tags
Green Green List (high evidence)	DPM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	DSPP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490 DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 Tags
Green Green List (high evidence)	DSTYK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805 Autosomal Recessive Complicated Spastic Paraparesis SPG23 Tags watchlist
Green Green List (high evidence)	DVL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Green Green List (high evidence)	DVL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT ROBINOW SYNDROME Tags
Green Green List (high evidence)	DYM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800 SMITH-MCCORT DYSPLASIA 607326 Tags
Green Green List (high evidence)	DYNC1H1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600 SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 Tags
Green Green List (high evidence)	DYNC2H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091 SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 Tags
Green Green List (high evidence)	DYRK1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104 Tags
Green Green List (high evidence)	EBF3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Hypotonia, ataxia, and delayed development syndrome OMIM:617330 hypotonia, ataxia, and delayed development syndrome MONDO:0015021 Tags
Green Green List (high evidence)	EBP	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960 Tags
Green Green List (high evidence)	ECEL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 5D 615065 Tags
Green Green List (high evidence)	EDA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500 ECTODERMAL DYSPLASIA TYPE 1 305100 Tags
Green Green List (high evidence)	EDAR	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Tags
Green Green List (high evidence)	EDNRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367 Tags
Green Green List (high evidence)	EDNRB	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCD SYNDROME 600501 Tags Q4_21_MOI
Green Green List (high evidence)	EFNB1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOFRONTONASAL SYNDROME 304110 Tags
Green Green List (high evidence)	EFTUD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536 Tags
Green Green List (high evidence)	EGR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253 Tags
Green Green List (high evidence)	EHMT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Kleefstra syndrome Tags
Green Green List (high evidence)	EIF2AK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WOLCOTT-RALLISON SYNDROME 226980 Tags
Green Green List (high evidence)	EIF4A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RICHIERI-COSTA-PEREIRA SYNDROME Tags
Green Green List (high evidence)	ELAC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	ELN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELN-RELATED CUTIS LAXA 314088 SUPRAVALVAR AORTIC STENOSIS 185500 Tags
Green Green List (high evidence)	ELOVL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457 Tags
Green Green List (high evidence)	ENPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312 ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 Tags
Green Green List (high evidence)	EOGT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ADAMS OLIVER SYNDROME Tags
Green Green List (high evidence)	EP300	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684 Tags
Green Green List (high evidence)	EPG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 Tags
Green Green List (high evidence)	ERCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA 229154 CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758 Tags
Green Green List (high evidence)	ERCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756 TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	ERCC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651 TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 XFE PROGEROID SYNDROME 610965 XERODERMA PIGMENTOSUM, GROUP F 278760 FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 Tags watchlist
Green Green List (high evidence)	ERCC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 Tags
Green Green List (high evidence)	ERCC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DE SANCTIS-CACCHIONE SYNDROME 278800 UV-SENSITIVE SYNDROME 609413 CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 COCKAYNE SYNDROME TYPE B 133540 Tags
Green Green List (high evidence)	ERCC6L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BONE MARROW FAILURE SYNDROME 2 615715 Tags
Green Green List (high evidence)	ERCC8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COCKAYNE SYNDROME TYPE A 216400 Tags
Green Green List (high evidence)	ERF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMPLEX CRANIOSYNOSTOSIS Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia Tags
Green Green List (high evidence)	ESCO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SC PHOCOMELIA SYNDROME 269000 ROBERTS SYNDROME 268300 Tags
Green Green List (high evidence)	ETFA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2A 231680 Tags
Green Green List (high evidence)	ETFB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2B 231680 Tags
Green Green List (high evidence)	ETFDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARIC ACIDURIA TYPE 2C 231680 Tags
Green Green List (high evidence)	ETHE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ETHYLMALONIC ENCEPHALOPATHY 602473 Tags
Green Green List (high evidence)	EVC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELLIS-VAN CREVELD SYNDROME 225500 ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 Tags
Green Green List (high evidence)	EVC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 ELLIS-VAN CREVELD SYNDROME 225500 Tags
Green Green List (high evidence)	EXOSC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 Tags
Green Green List (high evidence)	EXT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700 TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 Tags
Green Green List (high evidence)	EXT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EXOSTOSES, MULTIPLE, TYPE 2 133701 Tags
Green Green List (high evidence)	EYA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME TYPE 1 113650 OTOFACIOCERVICAL SYNDROME 166780 Tags watchlist
Green Green List (high evidence)	EZH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEAVER SYNDROME 2 614421 Tags
Green Green List (high evidence)	FAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TYROSINEMIA TYPE 1 276700 Tags
Green Green List (high evidence)	FAM111A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KENNY-CAFFEY SYNDROME 127000 Tags
Green Green List (high evidence)	FAM126A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 Tags
Green Green List (high evidence)	FAM161A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 28 606068 Tags
Green Green List (high evidence)	FAM20A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 Tags
Green Green List (high evidence)	FAM20C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAINE SYNDROME 259775 Tags
Green Green List (high evidence)	FAM58A	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes STAR SYNDROME 300707 Tags new-gene-name
Green Green List (high evidence)	FANCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 Tags
Green Green List (high evidence)	FANCB	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCB-RELATED FANCONI ANEMIA 229139 Tags
Green Green List (high evidence)	FANCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 Tags
Green Green List (high evidence)	FANCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 Tags
Green Green List (high evidence)	FANCE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 Tags
Green Green List (high evidence)	FANCF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 Tags
Green Green List (high evidence)	FANCG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 Tags
Green Green List (high evidence)	FANCI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCI-RELATED FANCONI ANEMIA 234476 FANCONI ANEMIA 229154 Tags
Green Green List (high evidence)	FAR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS Tags
Green Green List (high evidence)	FARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurometabolic disorder due to FARS2 deficiency Tags
Green Green List (high evidence)	FAT4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NEURONAL HETEROTOPIA HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006 VAN MALDERGEM SYNDROME 615546 Tags
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ISOLATED ECTOPIA LENTIS 129600 SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 MARFAN SYNDROME 154700 WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328 MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308 Tags watchlist
Green Green List (high evidence)	FBN2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Contractural arachnodactyly, congenital OMIM:121050 congenital contractural arachnodactyly MONDO:0007363 Tags Q2_21_MOI
Green Green List (high evidence)	FBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 Tags
Green Green List (high evidence)	FBXL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE Tags
Green Green List (high evidence)	FBXO11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FBXO11 related intellectual disability Variable Neurodevelopmental Disorder Tags watchlist
Green Green List (high evidence)	FGD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AARSKOG-SCOTT SYNDROME 305400 Tags
Green Green List (high evidence)	FGF10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LADD SYNDROME 149730 Tags
Green Green List (high evidence)	FGF12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	FGF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706 Tags
Green Green List (high evidence)	FGFR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PFEIFFER SYNDROME 101600 OSTEOGLOPHONIC DYSPLASIA 166250 Hartsfield syndrome 615465 KALLMANN SYNDROME TYPE 2 147950 IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110 Encephalocraniocutaneous lipomatosis 613001 Tags mosaicism
Green Green List (high evidence)	FGFR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790 ANTLEY-BIXLER SYNDROME 207410 FAMILIAL SCAPHOCEPHALY SYNDROME 609579 JACKSON-WEISS SYNDROME 123150 APERT SYNDROME 101200 CROUZON SYNDROME 123500 LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 ACROCEPHALOSYNDACTYLY TYPE V 101600 Tags
Green Green List (high evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THANATOPHORIC DYSPLASIA TYPE 2 187601 THANATOPHORIC DYSPLASIA TYPE 1 187600 MUENKE SYNDROME 602849 ACHONDROPLASIA 100800 CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247 CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474 LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730 HYPOCHONDROPLASIA 146000 Tags
Green Green List (high evidence)	FH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FUMARASE DEFICIENCY 606812 Tags
Green Green List (high evidence)	FHL1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 Tags
Green Green List (high evidence)	FKBP14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS Tags
Green Green List (high evidence)	FKRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 Tags
Green Green List (high evidence)	FKTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588 CARDIOMYOPATHY DILATED TYPE 1X 611615 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 Tags
Green Green List (high evidence)	FLAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. Tags
Green Green List (high evidence)	FLNA	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049 FRONTOMETAPHYSEAL DYSPLASIA 305620 FG SYNDROME TYPE 2 300321 X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048 MELNICK-NEEDLES SYNDROME 309350 Childhood Interstitial Lung Disease EPILEPTIC ENCEPHALOPATHY OTOPALATODIGITAL SYNDROME TYPE 1 311300 OTOPALATODIGITAL SYNDROME TYPE 2 304120 TERMINAL OSSEOUS DYSPLASIA 300244 Tags mosaicism
Green Green List (high evidence)	FLNB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL DOMINANT LARSEN SYNDROME 150250 ATELOSTEOGENESIS TYPE 3 108721 ATELOSTEOGENESIS TYPE 1 108720 BOOMERANG DYSPLASIA 112310 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 Tags
Green Green List (high evidence)	FLT4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MILROY DISEASE 153100 Tags
Green Green List (high evidence)	FLVCR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 Tags
Green Green List (high evidence)	FLVCR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790 Tags
Green Green List (high evidence)	FMR1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 311360 FRAGILE X SYNDROME 300624 FRAGILE X TREMOR/ATAXIA SYNDROME 300623 Tags
Green Green List (high evidence)	FOLR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068 Tags
Green Green List (high evidence)	FOXC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IRIDOGONIODYSGENESIS ANOMALY 601631 AXENFELD-RIEGER SYNDROME TYPE 3 602482 PETERS ANOMALY 604229 Tags
Green Green List (high evidence)	FOXC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYMPHEDEMA-DISTICHIASIS SYNDROME 153400 HEREDITARY LYMPHEDEMA II 241432 Tags
Green Green List (high evidence)	FOXE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BAMFORTH-LAZARUS SYNDROME 241850 Tags
Green Green List (high evidence)	FOXE3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL PRIMARY APHAKIA 610256 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 Tags
Green Green List (high evidence)	FOXF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 Tags
Green Green List (high evidence)	FOXG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL VARIANT OF RETT SYNDROME 613454 Tags
Green Green List (high evidence)	FOXN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 Tags
Green Green List (high evidence)	FOXP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 Tags
Green Green List (high evidence)	FOXP3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IPEX SYNDROME 304790 Tags
Green Green List (high evidence)	FOXRED1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	FRAS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRASER SYNDROME 219000 Tags
Green Green List (high evidence)	FREM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MANITOBA OCULOTRICHOANAL SYNDROME 248450 Tags
Green Green List (high evidence)	FREM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRASER SYNDROME 219000 Tags
Green Green List (high evidence)	FRMD7	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 Tags
Green Green List (high evidence)	FTCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100 Tags
Green Green List (high evidence)	FTL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 Tags
Green Green List (high evidence)	FTSJ1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 44 309549 Tags
Green Green List (high evidence)	FUCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FUCOSIDOSIS 230000 Tags
Green Green List (high evidence)	FYCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 Tags
Green Green List (high evidence)	FZD6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157 Tags
Green Green List (high evidence)	GAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE II 232300 Tags
Green Green List (high evidence)	GABRB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHIES CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 Tags
Green Green List (high evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KRABBE DISEASE 245200 Tags
Green Green List (high evidence)	GALE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPIMERASE-DEFICIENCY GALACTOSEMIA 230350 Tags
Green Green List (high evidence)	GALK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSEMIA II 230200 Tags
Green Green List (high evidence)	GALNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 Tags
Green Green List (high evidence)	GALT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALACTOSEMIA 230400 Tags
Green Green List (high evidence)	GAMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 Tags
Green Green List (high evidence)	GAS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA Tags
Green Green List (high evidence)	GATA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EMBERGER SYNDROME 614038 Tags
Green Green List (high evidence)	GATA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT TYPE 2 607941 Tags
Green Green List (high evidence)	GATA6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001 ATRIOVENTRICULAR SEPTAL DEFECT 5 614474 ATRIAL SEPTAL DEFECT 9 614475 Tags
Green Green List (high evidence)	GATAD2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID Tags
Green Green List (high evidence)	GATM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 Tags
Green Green List (high evidence)	GBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GAUCHER DISEASE TYPE 3 231000 GAUCHER DISEASE PERINATAL LETHAL 608013 GAUCHER DISEASE 230800 GAUCHER DISEASE TYPE 1 230800 GAUCHER DISEASE TYPE 2 230900 GAUCHER DISEASE TYPE 3C 231005 Tags
Green Green List (high evidence)	GBA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. Tags
Green Green List (high evidence)	GCDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUTARICACIDEMIA TYPE 1 231670 Tags
Green Green List (high evidence)	GCH1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSTONIA TYPE 5 128230 GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 Tags
Green Green List (high evidence)	GDF5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY TYPE C 113100 ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700 ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250 DU PAN SYNDROME 228900 SYMPHALANGISM PROXIMAL SYNDROME 185800 BRACHYDACTYLY TYPE A1 112500 BRACHYDACTYLY TYPE A2 112600 MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 Tags
Green Green List (high evidence)	GDF6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KLIPPEL-FEIL SYNDROME TYPE 1 118100 MICROPHTHALMIA ISOLATED TYPE 4 613094 Tags
Green Green List (high evidence)	GDI1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 48 300849 MENTAL RETARDATION X-LINKED TYPE 41 300849 Tags
Green Green List (high evidence)	GFAP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALEXANDER DISEASE 203450 Tags
Green Green List (high evidence)	GFM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060 Tags
Green Green List (high evidence)	GHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY DWARFISM II 262500 Tags
Green Green List (high evidence)	GJA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HALLERMANN-STREIFF SYNDROME 234100 HYPOPLASTIC LEFT HEART SYNDROME 241550 AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA 164200 AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA 257850 SYNDACTYLY TYPE 3 186100 Tags watchlist
Green Green List (high evidence)	GJA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 Tags
Green Green List (high evidence)	GJA8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR PULVERULENT TYPE 1 116200 CATARACT-MICROCORNEA SYNDROME 116150 Tags
Green Green List (high evidence)	GJB3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 2B 612644 DEAFNESS, AUTOSOMAL RECESSIVE ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 133200 Tags
Green Green List (high evidence)	GJC2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA, 44 613206 LEUKODYSTROPHY, HYPOMYELINATING, 2 608804 LYMPHEDEMA, HEREDITARY, IC 613480 Tags
Green Green List (high evidence)	GK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCEROL KINASE DEFICIENCY 307030 Tags
Green Green List (high evidence)	GLB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM1-GANGLIOSIDOSIS TYPE 1 230500 MUCOPOLYSACCHARIDOSIS TYPE 4B 253010 GM1-GANGLIOSIDOSIS TYPE 2 230600 GM1-GANGLIOSIDOSIS TYPE 3 230650 Tags
Green Green List (high evidence)	GLDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899 Tags
Green Green List (high evidence)	GLE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 Tags
Green Green List (high evidence)	GLI2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLI2-RELATED HOLOPROSENCEPHALY 261768 Tags
Green Green List (high evidence)	GLI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREAXIAL POLYDACTYLY TYPE IV 269157 GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700 POSTAXIAL POLYDACTYLY TYPE A 174200 PALLISTER-HALL SYNDROME 146510 Tags
Green Green List (high evidence)	GLIS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 Tags
Green Green List (high evidence)	GLMN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLOMUVENOUS MALFORMATIONS 138000 Tags
Green Green List (high evidence)	GLUD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 Tags
Green Green List (high evidence)	GLUL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 Tags
Green Green List (high evidence)	GM2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE AB 272750 Tags
Green Green List (high evidence)	GMPPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION Tags
Green Green List (high evidence)	GMPPB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 Tags
Green Green List (high evidence)	GNAI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GNAI1 syndrome Tags gene-checked
Green Green List (high evidence)	GNAI3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AURICULOCONDYLAR SYNDROME 602483 Tags
Green Green List (high evidence)	GNAO1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	GNAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GNAS HYPERFUNCTION 139320 PSEUDOHYPOPARATHYROIDISM TYPE 1B 603233 ALBRIGHT HEREDITARY OSTEODYSTROPHY 103580 ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 219080 Tags mosaicism
Green Green List (high evidence)	GNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mental retardation, autosomal dominant 42 OMIM:616973 intellectual disability, autosomal dominant 42 MONDO:0014855 Tags
Green Green List (high evidence)	GNPAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 Tags
Green Green List (high evidence)	GNPTAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE II 252500 MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 Tags
Green Green List (high evidence)	GNPTG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 Tags
Green Green List (high evidence)	GNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 Tags
Green Green List (high evidence)	GORAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Geroderma osteodysplasticum Tags
Green Green List (high evidence)	GPC3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 Tags
Green Green List (high evidence)	GPC4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KEIPERT SYNDROME 301026 Tags
Green Green List (high evidence)	GPSM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHUDLEY-MCCULLOUGH SYNDROME Tags
Green Green List (high evidence)	GRHL3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DER WOUDE SYNDROME 119300 Tags
Green Green List (high evidence)	GRIA3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 94 300699 Tags
Green Green List (high evidence)	GRIK2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 Tags
Green Green List (high evidence)	GRIN1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 intellectual disability, autosomal dominant 8 MONDO:0013655 Tags
Green Green List (high evidence)	GRIN2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LANDAU-KLEFFNER SYNDROME 245570 EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 Tags
Green Green List (high evidence)	GRIN2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY AUTISM 209850 MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 Tags
Green Green List (high evidence)	GRM6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 Tags
Green Green List (high evidence)	GTF2H5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 Tags
Green Green List (high evidence)	GTPBP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY Tags
Green Green List (high evidence)	GUCY2C	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECONIUM ILEUS FAMILIAL DIARRHEA DIARRHEA 6 614616 Tags
Green Green List (high evidence)	GUSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 7 253220 Tags
Green Green List (high evidence)	H3F3A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Craniofacial with neurodevelopment disorders Tags new-gene-name
Green Green List (high evidence)	HACE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HACE1 related disorder Tags
Green Green List (high evidence)	HADH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530 Tags
Green Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016 Tags
Green Green List (high evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738 Tags
Green Green List (high evidence)	HCCS	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 7 309801 Tags
Green Green List (high evidence)	HCFC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, X-LINKED 3 309541 COBALAMIN DISORDER Tags
Green Green List (high evidence)	HCN1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 Tags
Green Green List (high evidence)	HDAC4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 Tags
Green Green List (high evidence)	HDAC8	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR Cornelia de Lange Syndrome HDAC8 X-linked dominant Tags
Green Green List (high evidence)	HECW2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neurodevelopmental disorder with hypotonia, seizures, and absent language Tags
Green Green List (high evidence)	HEXA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE 1 272800 Tags
Green Green List (high evidence)	HEXB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GM2-GANGLIOSIDOSIS TYPE 2 268800 Tags
Green Green List (high evidence)	HGSNAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 Tags
Green Green List (high evidence)	HIBCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HIBCH DEFICIENCY 250620 Tags
Green Green List (high evidence)	HINT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200 Tags
Green Green List (high evidence)	HIVEP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HIVEP2 associated syndromic developmental delay with intellectual disability Tags
Green Green List (high evidence)	HLCS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 Tags
Green Green List (high evidence)	HMGCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 Tags
Green Green List (high evidence)	HMGCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 Tags
Green Green List (high evidence)	HNF1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL CYSTS AND DIABETES SYNDROME 137920 Tags
Green Green List (high evidence)	HNF4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850 ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353 Tags
Green Green List (high evidence)	HNRNPK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Au-Kline Syndrome Tags
Green Green List (high evidence)	HNRNPR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags gene-checked
Green Green List (high evidence)	HNRNPU	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	HOXA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOSLEY-SALIH-ALORAINY SYNDROME 601536 ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 Tags
Green Green List (high evidence)	HOXA13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HAND-FOOT-GENITAL SYNDROME 140000 Tags
Green Green List (high evidence)	HOXC13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931 Tags
Green Green List (high evidence)	HOXD13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713 VACTERL ASSOCIATION 192350 BRACHYDACTYLY TYPE E 113300 SYNPOLYDACTYLY 1 186000 SYNDACTYLY TYPE 5 186300 BRACHYDACTYLY TYPE D 113200 Tags
Green Green List (high evidence)	HPGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOOSTEOARTHROPATHY 259100 Tags
Green Green List (high evidence)	HPRT1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LESCH-NYHAN SYNDROME 300322 GOUT HPRT-RELATED 300323 Tags
Green Green List (high evidence)	HPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HERMANSKY-PUDLAK SYNDROME 203300 Tags
Green Green List (high evidence)	HPSE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes UROFACIAL SYNDROME 236730 Tags
Green Green List (high evidence)	HR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALOPECIA UNIVERSALIS 146550 ATRICHIA WITH PAPULAR LESIONS 209500 Tags
Green Green List (high evidence)	HRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040 COSTELLO SYNDROME 218040 Tags
Green Green List (high evidence)	HSD17B10	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 Tags
Green Green List (high evidence)	HSD17B4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515 PERRAULT SYNDROME Tags
Green Green List (high evidence)	HSD3B7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 Tags
Green Green List (high evidence)	HSF4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT ZONULAR HSF4-RELATED 116800 CATARACT MARNER TYPE 116800 Tags
Green Green List (high evidence)	HSPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKODYSTROPHY HYPOMYELINATING TYPE 4 612233 Tags
Green Green List (high evidence)	HSPG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHWARTZ-JAMPEL SYNDROME 255800 DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 Tags
Green Green List (high evidence)	HUWE1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 Tags
Green Green List (high evidence)	HYAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 9 601492 Tags
Green Green List (high evidence)	HYDIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CILIARY DYSKINESIA, PRIMARY, 5 608647 Tags
Green Green List (high evidence)	HYLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYDROLETHALUS SYNDROME TYPE 1 236680 Tags
Green Green List (high evidence)	IDS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 2 309900 Tags
Green Green List (high evidence)	IDUA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015 MUCOPOLYSACCHARIDOSIS TYPE 1S 607016 MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 Tags
Green Green List (high evidence)	IFIH1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 7 615846 SINGLETON-MERTEN SYNDROME 182250 Tags watchlist
Green Green List (high evidence)	IFITM5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA TYPE V 610967 Tags
Green Green List (high evidence)	IFT122	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA 218330 Tags
Green Green List (high evidence)	IFT140	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MAINZER-SALDINO SYNDROME 266920 Tags
Green Green List (high evidence)	IFT172	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JEUNE SYNDROME MAINZER-SALDINO SYNDROME 266920 Tags
Green Green List (high evidence)	IFT43	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Tags
Green Green List (high evidence)	IFT80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ASPHYXIATING THORACIC DYSTROPHY 2 611263 Tags
Green Green List (high evidence)	IGF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747 Tags
Green Green List (high evidence)	IGF1R	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 Tags
Green Green List (high evidence)	IGF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 Tags
Green Green List (high evidence)	IGHMBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 Tags
Green Green List (high evidence)	IGSF1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 Tags
Green Green List (high evidence)	IHH	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 BRACHYDACTYLY, TYPE A1 112500 Tags
Green Green List (high evidence)	IKBKG	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584 ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 INCONTINENTIA PIGMENTI 308300 Tags
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Craniosynostosis Crouzon-like craniosynostosis Tags watchlist
Green Green List (high evidence)	IL1RAPL1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 21 300143 Tags
Green Green List (high evidence)	IMPAD1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078 Tags new-gene-name
Green Green List (high evidence)	INPP5E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME TYPE 1 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 Tags
Green Green List (high evidence)	INPPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPSISMODYSPLASIA 258480 Tags
Green Green List (high evidence)	IQSEC2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 1 309530 Tags
Green Green List (high evidence)	IRF6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DER WOUDE SYNDROME 119300 POPLITEAL PTERYGIUM SYNDROME 119500 Tags
Green Green List (high evidence)	ISPD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WALKER WARBURG SYNDROME 614643 Tags new-gene-name
Green Green List (high evidence)	ITGA3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 Tags
Green Green List (high evidence)	ITGA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855 Tags
Green Green List (high evidence)	ITPR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPINOCEREBELLAR ATAXIA TYPE15 606658 SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 Gillespie Syndrome 206700 Tags watchlist
Green Green List (high evidence)	IVD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ISOVALERIC ACIDEMIA 243500 Tags
Green Green List (high evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALAGILLE SYNDROME 279357 Tags
Green Green List (high evidence)	JAGN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE CONGENITAL NEUTROPENIA Tags
Green Green List (high evidence)	JAK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 Tags
Green Green List (high evidence)	KANSL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 Tags
Green Green List (high evidence)	KARS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641 Tags new-gene-name
Green Green List (high evidence)	KAT6A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 Tags
Green Green List (high evidence)	KAT6B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE GENITOPATELLAR SYNDROME 606170 Tags
Green Green List (high evidence)	KBTBD13	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 6 609273 Tags
Green Green List (high evidence)	KCNA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Loss-of-function EPILEPTIC ENCEPHALOPATHY Gain-of-function Tags
Green Green List (high evidence)	KCNB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 Tags
Green Green List (high evidence)	KCNC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 Tags
Green Green List (high evidence)	KCNJ10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 Tags
Green Green List (high evidence)	KCNJ11	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 FAMILIAL HYPERINSULINISM 3272 Tags
Green Green List (high evidence)	KCNQ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400 Tags
Green Green List (high evidence)	KCNQ2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 BENIGN NEONATAL EPILEPSY TYPE 1 121200 Tags
Green Green List (high evidence)	KCNQ3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KCNQ3 syndrome Tags
Green Green List (high evidence)	KCNT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Tags
Green Green List (high evidence)	KCTD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCALP-EAR-NIPPLE SYNDROME Tags
Green Green List (high evidence)	KCTD7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 Tags
Green Green List (high evidence)	KDM5C	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 Tags
Green Green List (high evidence)	KDM6A	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KABUKI SYNDROME 2 300867 Tags
Green Green List (high evidence)	KIAA0586	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME 614615 Tags
Green Green List (high evidence)	KIF11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950 Tags
Green Green List (high evidence)	KIF1A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213 NESCAV SYNDROME, 614255 Tags
Green Green List (high evidence)	KIF1BP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460 Tags new-gene-name
Green Green List (high evidence)	KIF22	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 Tags
Green Green List (high evidence)	KIF7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCALLOSAL SYNDROME 200990 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	KIT	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HUMAN PIEBALDISM 172800 Tags
Green Green List (high evidence)	KLF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 Tags
Green Green List (high evidence)	KLHL40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348 Tags
Green Green List (high evidence)	KMT2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WIEDEMANN-STEINER SYNDROME 605130 Tags
Green Green List (high evidence)	KMT2D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KABUKI SYNDROME 147920 Tags
Green Green List (high evidence)	KMT2E	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Neurodevelopmental disorder and Epilepsy 618512 Tags
Green Green List (high evidence)	KMT5B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KMT5B syndrome Tags
Green Green List (high evidence)	KRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 NOONAN SYNDROME TYPE 3 609942 Tags
Green Green List (high evidence)	KRIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1 116860 Tags
Green Green List (high evidence)	L1CAM	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350 SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350 HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000 PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 Tags
Green Green List (high evidence)	L2HGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes L-2-HYDROXYGLUTARIC ACIDURIA 236792 Tags
Green Green List (high evidence)	LAMA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960 AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	LAMA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855 Tags
Green Green List (high evidence)	LAMC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OCCIPITAL CORTICAL MALFORMATIONS 614115 Tags
Green Green List (high evidence)	LAMP2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DANON DISEASE 300257 Tags
Green Green List (high evidence)	LARGE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 Tags
Green Green List (high evidence)	LARP7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ALAZAMI SYNDROME 615071 Tags
Green Green List (high evidence)	LBR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 Tags
Green Green List (high evidence)	LDB3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEFT VENTRICULAR NON-COMPACTION TYPE 3 601493 CARDIOMYOPATHY DILATED TYPE 1C 601493 MYOPATHY MYOFIBRILLAR TYPE 4 609452 Tags
Green Green List (high evidence)	LEMD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MELORHEOSTOSIS 155950 BUSCHKE-OLLENDORFF SYNDROME 166700 Tags
Green Green List (high evidence)	LFNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 609813 Tags
Green Green List (high evidence)	LHX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 Tags
Green Green List (high evidence)	LHX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 Tags
Green Green List (high evidence)	LIG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450 LIG4 SYNDROME 606593 Tags
Green Green List (high evidence)	LMBRD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 Tags
Green Green List (high evidence)	LMNA	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1 605588 CARDIOMYOPATHY DILATED WITH HYPERGONADOTROPIC HYPOGONADISM 212112 MUSCULAR DYSTROPHY CONGENITAL LMNA-RELATED 613205 FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2 151660 CARDIOMYOPATHY DILATED TYPE 1A 115200 HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 LETHAL TIGHT SKIN CONTRACTURE SYNDROME 275210 HEART-HAND SYNDROME SLOVENIAN TYPE 610140 MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY 248370 LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B 159001 EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2 181350 Tags
Green Green List (high evidence)	LMX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAIL-PATELLA SYNDROME 161200 Tags
Green Green List (high evidence)	LRP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY DONNAI-BARROW SYNDROME 222448 Tags watchlist
Green Green List (high evidence)	LRP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENANI-LENZ SYNDACTYLY SYNDROME 212780 Tags
Green Green List (high evidence)	LRP5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VITREORETINOPATHY EXUDATIVE TYPE 4 601813 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770 HIGH BONE MASS TRAIT 601884 OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634 ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 Tags
Green Green List (high evidence)	LRPPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111 Tags
Green Green List (high evidence)	LRRC6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DISKINESIA 614935 Tags new-gene-name
Green Green List (high evidence)	LTBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROSPHEROPHAKIA 251750 PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 Tags
Green Green List (high evidence)	LTBP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216 Tags
Green Green List (high evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHEDIAK-HIGASHI SYNDROME 214500 Tags
Green Green List (high evidence)	MAB21L2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA, SYNDROMIC 14 615877 Tags
Green Green List (high evidence)	MAF	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Ayme-Gripp syndrome: CATARACT, DEAFNESS, INTELLECTUAL DISABILITY, SEIZURES, AND A DOWN SYNDROME-LIKE FACIES CATARACT PULVERULENT JUVENILE-ONSET MAF-RELATED 610202 CATARACT CONGENITAL CERULEAN TYPE 4 610202 Tags
Green Green List (high evidence)	MAFB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME 166300 Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects Tags watchlist
Green Green List (high evidence)	MAGEL2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Schaaf-Yang syndrome ARTHROGRYPOSIS MULTIPLEX CONGENITA Tags watchlist
Green Green List (high evidence)	MAN1B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION Tags
Green Green List (high evidence)	MAN2B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 Tags
Green Green List (high evidence)	MANBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LYSOSOMAL BETA-MANNOSIDOSIS 248510 Tags
Green Green List (high evidence)	MAP2K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	MAP2K2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOFACIOCUTANEOUS SYNDROME 115150 Tags
Green Green List (high evidence)	MAP3K1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 46XY SEX REVERSAL 6 613762 Tags
Green Green List (high evidence)	MAPRE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Circumferential Skin Creases Kunze Type Tags
Green Green List (high evidence)	MASP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3MC SYNDROME 1 257920 Tags
Green Green List (high evidence)	MATN3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 Tags
Green Green List (high evidence)	MC2R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUCOCORTICOID DEFICIENCY 1 202200 Tags
Green Green List (high evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 Tags
Green Green List (high evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 Tags
Green Green List (high evidence)	MCEE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120 Tags
Green Green List (high evidence)	MCOLN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOLIPIDOSIS IV 252650 Tags
Green Green List (high evidence)	MCPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY PRIMARY TYPE 1 251200 Tags
Green Green List (high evidence)	MECP2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260 MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055 CHROMOSOME XQ28 DUPLICATION SYNDROME 300815 ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673 RETT SYNDROME (RTT)[ 312750 Tags
Green Green List (high evidence)	MED12	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPITZ-KAVEGGIA SYNDROME 305450 LUJAN-FRYNS SYNDROME 309520 Tags
Green Green List (high evidence)	MEF2C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 Tags
Green Green List (high evidence)	MEGF10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 Tags
Green Green List (high evidence)	MEGF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARPENTER SYNDROME 201000 Tags
Green Green List (high evidence)	MESP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681 Tags
Green Green List (high evidence)	MFRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NANOPHTHALMOS 2 609549 MICROPHTHALMIA ISOLATED TYPE 5 611040 Tags
Green Green List (high evidence)	MFSD2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Microcephaly 15, primary, autosomal recessive, 616486 Tags
Green Green List (high evidence)	MFSD8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951 Tags
Green Green List (high evidence)	MGAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066 Tags
Green Green List (high evidence)	MGP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KEUTEL SYNDROME 245150 Tags
Green Green List (high evidence)	MICU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 Tags
Green Green List (high evidence)	MID1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OPITZ G/BBB SYNDROME, X-LINKED 300000 Tags
Green Green List (high evidence)	MITF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness 617306 WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM 103470 TIETZ SYNDROME 103500 WAARDENBURG SYNDROME TYPE 2A 193510 Tags watchlist
Green Green List (high evidence)	MKKS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BARDET-BIEDL SYNDROME TYPE 6 209900 MCKUSICK-KAUFMAN SYNDROME 236700 Tags
Green Green List (high evidence)	MKS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECKEL SYNDROME TYPE 1 249000 BARDET-BIEDL SYNDROME TYPE 13 209900 Tags
Green Green List (high evidence)	MLC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 Tags
Green Green List (high evidence)	MLYCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 Tags
Green Green List (high evidence)	MMAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLA 251100 Tags
Green Green List (high evidence)	MMAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE CBLB 251110 Tags
Green Green List (high evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 Tags
Green Green List (high evidence)	MMADHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 Tags
Green Green List (high evidence)	MMP13	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METAPHYSEAL ANADYSPLASIA TYPE 1 602111 SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 Tags
Green Green List (high evidence)	MMP21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MMP21-associated heterotaxy Tags
Green Green List (high evidence)	MNX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CURRARINO SYNDROME 176450 Tags
Green Green List (high evidence)	MOCS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOLYBDENUM COFACTOR DEFICIENCY 603707 Tags
Green Green List (high evidence)	MOCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MOLYBDENUM COFACTOR DEFICIENCY 603707 Tags
Green Green List (high evidence)	MPDU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	MPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	MPLKIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050 Tags
Green Green List (high evidence)	MPV17	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810 Tags
Green Green List (high evidence)	MRE11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATAXIA TELANGIECTASIA-LIKE DISORDER 604391 Tags
Green Green List (high evidence)	MSL3	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MSL3 syndrome Tags
Green Green List (high evidence)	MSX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEFT LIP +/- CLEFT PALATE 608874 Tags
Green Green List (high evidence)	MSX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550 CRANIOSYNOSTOSIS, TYPE 2 604757 Tags
Green Green List (high evidence)	MT-TP	1 review	MITOCHONDRIAL	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MERRF 545000 Tags gene-checked
Green Green List (high evidence)	MTHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250 Tags
Green Green List (high evidence)	MTM1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYOTUBULAR MYOPATHY, X-LINKED 310400 Tags
Green Green List (high evidence)	MTO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 Tags
Green Green List (high evidence)	MTOR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY Smith-Kingsmore syndrome Tags watchlist
Green Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLCOBALAMIN DEFICIENCY TYPE G 250940 Tags
Green Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 Tags
Green Green List (high evidence)	MUT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes METHYLMALONIC ACIDURIA TYPE MUT 251000 Tags new-gene-name
Green Green List (high evidence)	MYCN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FEINGOLD SYNDROME TYPE 1 164280 Tags
Green Green List (high evidence)	MYH3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 2A 193700 DISTAL ARTHROGRYPOSIS TYPE 2B 601680 Recessive Spondylocarpotarsal Synostosis Syndrome Tags watchlist
Green Green List (high evidence)	MYH6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 ATRIAL SEPTAL DEFECT TYPE 3 614089 Tags
Green Green List (high evidence)	MYH8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DISTAL ARTHROGRYPOSIS TYPE 158300 CARNEY COMPLEX VARIANT 608837 Tags
Green Green List (high evidence)	MYH9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEAFNESS AUTOSOMAL DOMINANT TYPE 17 603622 SEBASTIAN SYNDROME 155100 MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS 155100 EPSTEIN SYNDROME 155100 MAY-HEGGLIN ANOMALY 155100 FECHTNER SYNDROME 155100 Tags
Green Green List (high evidence)	MYO5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ELEJALDE SYNDROME 256710 GRISCELLI SYNDROME TYPE 3 609227 Tags
Green Green List (high evidence)	MYO5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROVILLUS INCLUSION DISEASE 251850 Tags
Green Green List (high evidence)	MYO7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes USHER SYNDROME TYPE 1B 276900 DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 Tags
Green Green List (high evidence)	MYT1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MYT1L syndrome INTELLECTUAL DISABILITY Tags watchlist
Green Green List (high evidence)	NAA10	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-linked anophthalmia syndrome/Lenz NONPECIFIC SEVERE ID X-linked anophthalmia syndrome OGDEN SYNDROME 300855 Tags
Green Green List (high evidence)	NACC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Infantile Epilepsy, Cataracts, and Profound Developmental Delay Tags
Green Green List (high evidence)	NAGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHINDLER DISEASE 609241 KANZAKI DISEASE 609242 Tags
Green Green List (high evidence)	NAGLU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 Tags
Green Green List (high evidence)	NAGS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310 Tags
Green Green List (high evidence)	NALCN	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419 CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266 SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY Tags
Green Green List (high evidence)	NANS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes infantile-onset severe developmental delay and skeletal dysplasia Tags
Green Green List (high evidence)	NBAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483 Tags
Green Green List (high evidence)	NBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIJMEGEN BREAKAGE SYNDROME 251260 Tags
Green Green List (high evidence)	NDE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 4 614019 Tags
Green Green List (high evidence)	NDP	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NORRIE DISEASE 310600 Tags
Green Green List (high evidence)	NDUFA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	NDUFS4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 LEIGH SYNDROME 256000 LEIGH SYNDROME DUP 256000 Tags
Green Green List (high evidence)	NDUFS7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFS8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NDUFV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NEB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030 Tags
Green Green List (high evidence)	NECTIN4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573 Tags
Green Green List (high evidence)	NEK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 Tags monogenic-polygenic
Green Green List (high evidence)	NEU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIALIDOSIS 256550 Tags
Green Green List (high evidence)	NF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WATSON SYNDROME 193520 NEUROFIBROMATOSIS TYPE 1 162200 NEUROFIBROMATOSIS-NOONAN SYNDROME 601321 FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 Tags
Green Green List (high evidence)	NFIX	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARSHALL-SMITH SYNDROME 602535 SOTOS-LIKE SYNDROME 614753 Tags
Green Green List (high evidence)	NFU1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 Tags
Green Green List (high evidence)	NGLY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF DEGLYCOSYLATION 615273 Tags
Green Green List (high evidence)	NHS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NANCE-HORAN SYNDROME 302350 CATARACT CONGENITAL X-LINKED 302200 Tags
Green Green List (high evidence)	NIPBL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNELIA DE LANGE SYNDROME TYPE 1 122470 Tags
Green Green List (high evidence)	NKX2-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978 BENIGN HEREDITARY CHOREA 118700 Tags
Green Green List (high evidence)	NKX2-5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900 TETRALOGY OF FALLOT 187500 CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250 Tags
Green Green List (high evidence)	NKX3-2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330 Tags
Green Green List (high evidence)	NMNAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553 Tags
Green Green List (high evidence)	NODAL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HETEROTAXY SYNDROME 207574 Tags
Green Green List (high evidence)	NOG	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TARSAL-CARPAL COALITION SYNDROME 186570 MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500 STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460 BRACHYDACTYLY TYPE B2 611377 SYMPHALANGISM PROXIMAL SYNDROME 185800 Tags
Green Green List (high evidence)	NOTCH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HAJDU-CHENEY SYNDROME 102500 Tags
Green Green List (high evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C1 257220 Tags
Green Green List (high evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIEMANN-PICK DISEASE, TYPE C2 607625 Tags
Green Green List (high evidence)	NPHP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME TYPE 4 609583 NEPHRONOPHTHISIS TYPE 1 256100 SENIOR-LOKEN SYNDROME TYPE 1 266900 Tags
Green Green List (high evidence)	NPHP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS TYPE 3 604387 RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540 MECKEL SYNDROME TYPE 7 267010 Tags
Green Green List (high evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHRONOPHTHISIS TYPE 4 606966 Tags
Green Green List (high evidence)	NPHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME TYPE 1 256300 Tags
Green Green List (high evidence)	NPHS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME, TYPE 2 600995 Tags
Green Green List (high evidence)	NPR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 Tags
Green Green List (high evidence)	NR2F1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722 Tags
Green Green List (high evidence)	NR2F2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HEART DEFECTS and XX sex reversal Tags
Green Green List (high evidence)	NR5A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPERMATOGENIC FAILURE 8 613957 46XY SEX REVERSAL 3 612965 Tags
Green Green List (high evidence)	NRAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME TYPE 6 613224 Tags
Green Green List (high evidence)	NSD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WEAVER SYNDROME 277590 BECKWITH-WIEDEMANN SYNDROME 130650 SOTOS SYNDROME 117550 Tags
Green Green List (high evidence)	NSDHL	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CK SYNDROME 300831 CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 Tags
Green Green List (high evidence)	NT5C3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120 Tags
Green Green List (high evidence)	NTRK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 Tags
Green Green List (high evidence)	NUBPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 Tags
Green Green List (high evidence)	NUP107	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GALLOWAY-MOWAT SYNDROME 7, 618348 EARLY-CHILDHOOD-ONSET STEROID-RESISTANT NEPHROTIC SYNDROME Tags watchlist
Green Green List (high evidence)	NYX	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 Tags
Green Green List (high evidence)	OBSL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 3-M SYNDROME 2 612921 Tags
Green Green List (high evidence)	OCRL	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DENT DISEASE TYPE 2 300555 LOWE OCULOCEREBRORENAL SYNDROME 309000 Tags
Green Green List (high evidence)	OFD1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209 ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200 JOUBERT SYNDROME TYPE 10 300804 Tags
Green Green List (high evidence)	OPHN1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED OPHN1-RELATED 300486 Tags
Green Green List (high evidence)	ORC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 1 224690 Tags
Green Green List (high evidence)	ORC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 2 613800 Tags
Green Green List (high evidence)	ORC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEIER-GORLIN SYNDROME 3 613803 Tags
Green Green List (high evidence)	OTC	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 Tags
Green Green List (high evidence)	OTOGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MODERATE SENSORINEURAL HEARING LOSS 614944 Tags
Green Green List (high evidence)	OTULIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Otulin-related auto inflammatory syndrome Tags
Green Green List (high evidence)	OTX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA SYNDROMIC TYPE 5 610125 Tags
Green Green List (high evidence)	OXCT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 Tags
Green Green List (high evidence)	P3H1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes OSTEOGENESIS IMPERFECTA, TYPE VIII 610915 Tags
Green Green List (high evidence)	PAFAH1B1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCORTICAL BAND HETEROTOPIA 607432 LISSENCEPHALY TYPE 1 607432 Tags
Green Green List (high evidence)	PAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600 PHENYLKETONURIA 261600 Tags
Green Green List (high evidence)	PAK3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGENESIS OF THE CORPUS CALLOSUM MENTAL RETARDATION X-LINKED TYPE 30 300558 Tags
Green Green List (high evidence)	PALB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 Tags
Green Green List (high evidence)	PAPSS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847 Tags
Green Green List (high evidence)	PARN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 6 Tags
Green Green List (high evidence)	PAX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL-COLOBOMA SYNDROME 120330 Tags
Green Green List (high evidence)	PAX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 1 193500 CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 Tags
Green Green List (high evidence)	PAX6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COLOBOMA OF OPTIC NERVE 120430 ANIRIDIA 106210 FOVEAL HYPOPLASIA 136520 BILATERAL OPTIC NERVE HYPOPLASIA 165550 KERATITIS HEREDITARY 148190 PETERS ANOMALY 604229 ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 Tags
Green Green List (high evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700 Tags
Green Green List (high evidence)	PAX9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOOTH AGENESIS, SELECTIVE, 3 604625 Tags
Green Green List (high evidence)	PC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PYRUVATE CARBOXYLASE DEFICIENCY 266150 Tags
Green Green List (high evidence)	PCBD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 Tags
Green Green List (high evidence)	PCCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROPIONIC ACIDEMIA 606054 Tags
Green Green List (high evidence)	PCCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROPIONIC ACIDEMIA 606054 Tags
Green Green List (high evidence)	PCDH19	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9 300088 Tags
Green Green List (high evidence)	PCGF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DUSBILITY Craniofacial Neurological Cardiovascular and Skeletal Features Tags watchlist
Green Green List (high evidence)	PCNT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II 210720 Tags
Green Green List (high evidence)	PCYT1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940 Tags
Green Green List (high evidence)	PDCD10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285 Tags
Green Green List (high evidence)	PDE4D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRODYSOSTOSIS 101800 Tags
Green Green List (high evidence)	PDE6G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RETINITIS PIGMENTOSA 57 613582 Tags
Green Green List (high evidence)	PDGFRB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812 FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 Tags
Green Green List (high evidence)	PDHA1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILTIY 312170 X-LINKED LEIGH SYNDROME 312170 PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 Tags
Green Green List (high evidence)	PDHX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 Tags
Green Green List (high evidence)	PDSS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 Tags
Green Green List (high evidence)	PEPD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROLIDASE DEFICIENCY 170100 Tags
Green Green List (high evidence)	PEX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 ADRENOLEUKODYSTROPHY NEONATAL 202370 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 Tags
Green Green List (high evidence)	PEX11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Peroxisome biogenesis disorder 14B Tags
Green Green List (high evidence)	PEX12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 Tags
Green Green List (high evidence)	PEX13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789 ADRENOLEUKODYSTROPHY NEONATAL 202370 Tags
Green Green List (high evidence)	PEX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 Tags
Green Green List (high evidence)	PEX16	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 Tags
Green Green List (high evidence)	PEX19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 Tags
Green Green List (high evidence)	PEX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 Tags
Green Green List (high evidence)	PEX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 ADRENOLEUKODYSTROPHY NEONATAL 202370 INFANTILE REFSUM DISEASE 266510 Tags
Green Green List (high evidence)	PEX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZELLWEGER SYNDROME 214100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 4 601498 Tags
Green Green List (high evidence)	PEX7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes REFSUM DISEASE 266500 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100 PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 Tags
Green Green List (high evidence)	PGAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PGAP3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 Tags
Green Green List (high evidence)	PGK1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 Tags
Green Green List (high evidence)	PGM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921 Tags
Green Green List (high evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IMMUNODEFICIENCY 23 615816 Tags
Green Green List (high evidence)	PHF6	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 Tags
Green Green List (high evidence)	PHF8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 Tags
Green Green List (high evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815 NEU-LAXOVA SYNDROME 256520 Tags
Green Green List (high evidence)	PHIP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Developmental delay, ID, obesity and dysmorphic features Tags
Green Green List (high evidence)	PHOX2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 Tags
Green Green List (high evidence)	PIEZO2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTHROGRYPOSIS, DISTAL, TYPE 3 114300 Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception Tags
Green Green List (high evidence)	PIGA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 Tags Skewed X-inactivation
Green Green List (high evidence)	PIGB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality Tags
Green Green List (high evidence)	PIGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ZUNICH NEUROECTODERMAL SYNDROME 280000 Tags
Green Green List (high evidence)	PIGO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 Tags
Green Green List (high evidence)	PIGT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 Tags
Green Green List (high evidence)	PIGV	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 Tags
Green Green List (high evidence)	PIK3CA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI 612918 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 602501 HEMIMEGALENCEPHALY PIK3CA Tags mosaicism
Green Green List (high evidence)	PIK3R1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT SYNDROME 269880 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 Tags
Green Green List (high evidence)	PIK3R2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 Tags
Green Green List (high evidence)	PITX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 180500 PETERS ANOMALY 604229 RING DERMOID OF CORNEA 180550 IRIDOGONIODYSGENESIS TYPE 2 137600 Tags
Green Green List (high evidence)	PITX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CATARACT AUTOSOMAL DOMINANT 604219 CATARACT POSTERIOR POLAR TYPE 4 610623 ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 Tags
Green Green List (high evidence)	PKD1L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Laterality defects Tags
Green Green List (high evidence)	PKHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 Tags
Green Green List (high evidence)	PLA2G6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE NEUROAXONAL DYSTROPHY 1 256600 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B 610217 Tags
Green Green List (high evidence)	PLCE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEPHROTIC SYNDROME, TYPE 3 610725 Tags
Green Green List (high evidence)	PLK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 Tags
Green Green List (high evidence)	PLOD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400 Tags
Green Green List (high evidence)	PLOD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRUCK SYNDROME TYPE 2 609220 Tags
Green Green List (high evidence)	PLP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 Tags
Green Green List (high evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Tags
Green Green List (high evidence)	PMS2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MISMATCH REPAIR CANCER SYNDROME 276300 Tags
Green Green List (high evidence)	PNKP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402 ATAXIA-OCULOMOTOR APRAXIA 4 616267 Tags
Green Green List (high evidence)	PNPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEARING LOSS RESPIRATORY CHAIN DISORDER 614932 Tags
Green Green List (high evidence)	POC1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMORDIAL DWARFISM 615272 SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 Tags
Green Green List (high evidence)	POC1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY Tags
Green Green List (high evidence)	POGZ	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	POLA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN ESCH-O'DRISCOLL SYNDROME 301030 Tags
Green Green List (high evidence)	POLD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM Tags
Green Green List (high evidence)	POLG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700 Tags
Green Green List (high evidence)	POLR1C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TREACHER COLLINS SYNDROME TYPE 3 248390 Tags
Green Green List (high evidence)	POLR1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TREACHER COLLINS SYNDROME TYPE 2 613717 Tags
Green Green List (high evidence)	POLR2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYNDROMIC INTELLECTUAL DISABILITY 612100 Tags
Green Green List (high evidence)	POLR3A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal Recessive Wiedemann Rautenstrauch Syndrome LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 Tags
Green Green List (high evidence)	POLR3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Autosomal recessive mental retardation Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B-related neurodevelopmental disorder Tags
Green Green List (high evidence)	POMGNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 Tags
Green Green List (high evidence)	POMGNT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WALKER WARBERG SYNDROME 614830 Tags
Green Green List (high evidence)	POMT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 Tags
Green Green List (high evidence)	POMT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 Tags
Green Green List (high evidence)	PORCN	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FOCAL DERMAL HYPOPLASIA 305600 Tags
Green Green List (high evidence)	POU1F1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 Tags
Green Green List (high evidence)	POU3F3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY 616579 Tags
Green Green List (high evidence)	PPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Sudden arrhythmic cardiac death after infectious or alcohol trigger Tags
Green Green List (high evidence)	PPM1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PPM1D syndrome Tags
Green Green List (high evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair Tags
Green Green List (high evidence)	PPP2R1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PPP2R5D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PPT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 Tags
Green Green List (high evidence)	PQBP1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENPENNING S(YNDROME 1 309500 Tags
Green Green List (high evidence)	PRDM12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 Tags
Green Green List (high evidence)	PRKAR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRODYSOSTOSIS 101800 Tags
Green Green List (high evidence)	PRKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Syndromic congenital heart defects Tags
Green Green List (high evidence)	PRMT7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pseudohypoparathyroidism-like disorder Tags
Green Green List (high evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 Tags
Green Green List (high evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTS SYNDROME 301835 PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 DEAFNESS X-LINKED TYPE 1 304500 CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 Tags
Green Green List (high evidence)	PRRT2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL RECESSIVE MENTAL RETARDATION BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 Tags
Green Green List (high evidence)	PRSS12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 Tags
Green Green List (high evidence)	PRSS56	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 6 613517 Tags
Green Green List (high evidence)	PSAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ATYPICAL KRABBE DISEASE 611722 Tags
Green Green List (high evidence)	PSMB8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NAKAJO SYNDROME 256040 Tags
Green Green List (high evidence)	PSPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023 NEU-LAXOVA 256520 Tags
Green Green List (high evidence)	PTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BASAL CELL NEVUS SYNDROME 109400 HOLOPROSENCEPHALY-7 610828 Tags
Green Green List (high evidence)	PTCHD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTISM/ID 300830 Tags
Green Green List (high evidence)	PTDSS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 Tags
Green Green List (high evidence)	PTEN	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BANNAYAN-ZONANA SYNDROME 153480 COWDEN DISEASE 158350 MACROCEPHALY/AUTISM SYNDROME 605309 VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 PROTEUS SYNDROME 176920 LHERMITTE-DUCLOS DISEASE 158350 Tags mosaicism
Green Green List (high evidence)	PTF1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069 PANCREATIC AGENESIS Tags
Green Green List (high evidence)	PTH1R	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 EIKEN SKELETAL DYSPLASIA 600002 PRIMARY FAILURE OF TOOTH ERUPTION 125350 CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 Tags
Green Green List (high evidence)	PTHLH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRACHYDACTYLY, TYPE E2 613382 CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS Tags
Green Green List (high evidence)	PTPN11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEOPARD SYNDROME TYPE 1 151100 NOONAN SYNDROME 1 163950 Tags
Green Green List (high evidence)	PTS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 Tags
Green Green List (high evidence)	PUF60	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes 8Q24.3 DELETION-LIKE PUF60 syndrome Tags watchlist
Green Green List (high evidence)	PURA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DISABILITY Tags
Green Green List (high evidence)	PYCR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940 Tags
Green Green List (high evidence)	PYGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE VI 232700 Tags
Green Green List (high evidence)	QDPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 Tags
Green Green List (high evidence)	QRICH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes QRICH1 syndrome Tags
Green Green List (high evidence)	RAB18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARBURG MICRO SYNDROME TYPE 3 614222 Tags
Green Green List (high evidence)	RAB23	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 Tags
Green Green List (high evidence)	RAB39B	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 Tags
Green Green List (high evidence)	RAB3GAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes WARBURG MICRO SYNDROME TYPE 1 600118 Tags
Green Green List (high evidence)	RAB3GAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARTSOLF SYNDROME 212720 Tags
Green Green List (high evidence)	RAD21	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COHESINOPATHY 614701 Tags
Green Green List (high evidence)	RAF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 5 611553 Tags
Green Green List (high evidence)	RAI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMITH-MAGENIS SYNDROME 182290 Tags
Green Green List (high evidence)	RAPSN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931 FETAL AKINESIA DEFORMATION SEQUENCE 208150 Tags
Green Green List (high evidence)	RARB	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA Tags
Green Green List (high evidence)	RARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 Tags
Green Green List (high evidence)	RASA1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARKES WEBER SYNDROME 608355 CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 Tags
Green Green List (high evidence)	RAX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED TYPE 3 611038 Tags
Green Green List (high evidence)	RBM8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 Tags
Green Green List (high evidence)	RECQL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RAPADILINO SYNDROME 266280 BALLER-GEROLD SYNDROME 218600 ROTHMUND-THOMSON SYNDROME 268400 Tags
Green Green List (high evidence)	RELN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LISSENCEPHALY 2 319306 Tags
Green Green List (high evidence)	RERE	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Phenocopy of Proximal 1p36 Deletions Tags
Green Green List (high evidence)	RET	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL AGENESIS 191830 MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 Tags
Green Green List (high evidence)	RETREG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 Tags
Green Green List (high evidence)	RFX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARTINEZ-FRIAS SYNDROME 601346 Tags
Green Green List (high evidence)	RIPK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650 Tags
Green Green List (high evidence)	RIT1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN SYNDROME 8 615355 Tags
Green Green List (high evidence)	RMRP	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARTILAGE-HAIR HYPOPLASIA 250250 Tags
Green Green List (high evidence)	RNASEH2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 4 610333 Tags
Green Green List (high evidence)	RNASEH2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 2 610181 Tags
Green Green List (high evidence)	RNASEH2C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 3 610329 Tags
Green Green List (high evidence)	RNASET2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951 Tags
Green Green List (high evidence)	RNU4ATAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 Tags
Green Green List (high evidence)	ROBO3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313 Tags
Green Green List (high evidence)	ROGDI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes KOHLSCHTTER-TNZ SYNDROME 226750 Tags
Green Green List (high evidence)	ROR2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 BRACHYDACTYLY, TYPE B1 113000 ROR2-RELATED DISORDERS AR 268310 Tags
Green Green List (high evidence)	RPE65	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 608553 Tags
Green Green List (high evidence)	RPGRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEBER CONGENITAL AMAUROSIS 6 613826 CONE-ROD DYSTROPHY 13 608194 Tags
Green Green List (high evidence)	RPGRIP1L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MECKEL SYNDROME TYPE 5 611561 JOUBERT SYNDROME TYPE 7 611560 COACH SYNDROME 216360 Tags
Green Green List (high evidence)	RPL11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Diamond-Blackfan anemia with cleft palate and abnormal thumbs Tags
Green Green List (high evidence)	RPS19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176 Tags
Green Green List (high evidence)	RPS6KA3	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Coffin-Lowry Syndrome 2 RPS6KA3 XLD Coffin-Lowry Syndrome 2 RPS6KA3 XLR Tags
Green Green List (high evidence)	RRAS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	RRM2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Mitochondrial depletion syndrome Tags
Green Green List (high evidence)	RSPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS Tags
Green Green List (high evidence)	RSPH3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS Tags
Green Green List (high evidence)	RSPO4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANONYCHIA CONGENITA 206800 Tags
Green Green List (high evidence)	RTEL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190 Tags
Green Green List (high evidence)	RTN4IP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EARLY-ONSET RECESSIVE OPTIC NEUROPATHY Tags
Green Green List (high evidence)	RTTN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BILATERAL DIFFUSE POLYMICROGYRIA 614833 Tags
Green Green List (high evidence)	RUNX2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CLEIDOCRANIAL DYSPLASIA 119600 Tags
Green Green List (high evidence)	RYR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 Tags
Green Green List (high evidence)	SALL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TOWNES-BROCKS SYNDROME 107480 Tags
Green Green List (high evidence)	SALL4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACRO-RENAL-OCULAR SYNDROME 607323 DUANE-RADIAL RAY SYNDROME 607323 Tags
Green Green List (high evidence)	SAMD9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy Tags
Green Green List (high evidence)	SAMHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AICARDI-GOUTIERES SYNDROME 239588 Tags
Green Green List (high evidence)	SATB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID CLEFT PALATE ISOLATED 119540 SYNDROMAL PIERRE ROBIN SEQUENCE Tags
Green Green List (high evidence)	SBDS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHWACHMAN-DIAMOND SYNDROME 607444 Tags
Green Green List (high evidence)	SC5D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LATHOSTEROLOSIS 607330 Tags
Green Green List (high evidence)	SCARF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes VAN DEN ENDE-GUPTA SYNDROME 600920 Tags
Green Green List (high evidence)	SCN11A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL INABILITY TO EXPERIENCE PAIN EPISODIC PAIN SYNDROME, FAMILIAL 615552 Tags watchlist
Green Green List (high evidence)	SCN1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCN1A-RELATED SEIZURE DISORDERS 607208 Tags
Green Green List (high evidence)	SCN1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233 BRUGADA SYNDROME 5 612838 Tags
Green Green List (high evidence)	SCN2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 INFANTILE EPILEPTIC ENCEPHALOPATHY Tags
Green Green List (high evidence)	SCN4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPOKALEMIC PERIODIC PARALYSIS 613345 PARAMYOTONIA CONGENITA OF VON EULENBURG 168300 HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 Tags
Green Green List (high evidence)	SCN8A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558 Tags
Green Green List (high evidence)	SCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 Tags
Green Green List (high evidence)	SCO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 Tags
Green Green List (high evidence)	SDCCAG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SENIOR-LOKEN SYNDROME 7 613615 Tags
Green Green List (high evidence)	SDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LEIGH SYNDROME 256000 Tags
Green Green List (high evidence)	SDHAF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 Tags
Green Green List (high evidence)	SEC23B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 Tags
Green Green List (high evidence)	SEPSECS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Pontocerebellar hypoplasia type 2D Tags
Green Green List (high evidence)	SETBP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 Tags
Green Green List (high evidence)	SETD5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 Tags
Green Green List (high evidence)	SF3B4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400 Tags
Green Green List (high evidence)	SGSH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 Tags
Green Green List (high evidence)	SH3PXD2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FRANK-TER HAAR SYNDROME 249420 Tags
Green Green List (high evidence)	SHH	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638 TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500 SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250 HOLOPROSENCEPHALY TYPE 3 236100 Tags
Green Green List (high evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721 Tags
Green Green List (high evidence)	SHOX	2 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes LERI-WEILL DYSCHONDROSTEOSIS 127300 LANGER MESOMELIC DYSPLASIA 249700 Tags Pseudoautosomal region 1
Green Green List (high evidence)	SIK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEONATAL EPILEPSY SPECTRUM Tags
Green Green List (high evidence)	SIL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MARINESCO-SJOEGREN SYNDROME 248800 Tags
Green Green List (high evidence)	SIM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Severe obesity with neurobehavioral features Tags gene-checked multifactorial
Green Green List (high evidence)	SIX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Non-syndromic craniosynostosis DEAFNESS AUTOSOMAL DOMINANT TYPE 23 605192 BRANCHIOOTIC SYNDROME TYPE 3 608389 Tags watchlist
Green Green List (high evidence)	SIX3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HOLOPROSENCEPHALY 609637 Tags
Green Green List (high evidence)	SIX5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BRANCHIOOTORENAL SYNDROME TYPE 2 610896 Tags
Green Green List (high evidence)	SKI	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 Tags
Green Green List (high evidence)	SKIV2L	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes TRICHOHEPATOENTERIC SYNDROME 2 615602 Tags
Green Green List (high evidence)	SLC10A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Chondrodysplasia with multiple dislocations and amelogenesis imperfecta Tags
Green Green List (high evidence)	SLC12A6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 Tags
Green Green List (high evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE Tags
Green Green List (high evidence)	SLC16A2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 Tags
Green Green List (high evidence)	SLC17A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INFANTILE SIALIC ACID STORAGE DISORDER 269920 SALLA DISEASE 604369 Tags
Green Green List (high evidence)	SLC19A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483 Tags
Green Green List (high evidence)	SLC22A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 Tags
Green Green List (high evidence)	SLC25A15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 Tags
Green Green List (high evidence)	SLC25A20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 Tags
Green Green List (high evidence)	SLC25A24	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Gorlin-Chaudhry-Moss syndrome (GCMS) Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction Tags
Green Green List (high evidence)	SLC25A26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY Tags
Green Green List (high evidence)	SLC25A38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 Tags
Green Green List (high evidence)	SLC26A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ACHONDROGENESIS TYPE 1B 600972 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900 ATELOSTEOGENESIS TYPE 2 256050 DIASTROPHIC DYSPLASIA 222600 Tags
Green Green List (high evidence)	SLC27A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ICHTHYOSIS PREMATURITY SYNDROME 608649 Tags
Green Green List (high evidence)	SLC2A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLUT1 DEFICIENCY SYNDROME TYPE 2 612126 GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 Tags
Green Green List (high evidence)	SLC2A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ARTERIAL TORTUOSITY SYNDROME 208050 Tags
Green Green List (high evidence)	SLC2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI-BICKEL SYNDROME 227810 Tags
Green Green List (high evidence)	SLC33A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN Tags
Green Green List (high evidence)	SLC35A2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Epileptic Encephalopathy due to congenital disorder of glycosylation Tags
Green Green List (high evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 Tags
Green Green List (high evidence)	SLC35D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SCHNECKENBECKEN DYSPLASIA 269250 Tags
Green Green List (high evidence)	SLC39A13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350 SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668 Tags
Green Green List (high evidence)	SLC39A8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Intellectual Disability with Cerebellar Atrophy Tags
Green Green List (high evidence)	SLC46A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HEREDITARY FOLATE MALABSORPTION 229050 Tags
Green Green List (high evidence)	SLC4A1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800 RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 Tags
Green Green List (high evidence)	SLC4A11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 Tags
Green Green List (high evidence)	SLC4A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 Tags
Green Green List (high evidence)	SLC52A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2 Tags
Green Green List (high evidence)	SLC52A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530 Tags
Green Green List (high evidence)	SLC5A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes THYROID HORMONOGENESIS DEFECT I 274400 Tags
Green Green List (high evidence)	SLC6A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES Tags
Green Green List (high evidence)	SLC6A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes PARKINSONISM-DYSTONIA, INFANTILE 319029 Tags
Green Green List (high evidence)	SLC6A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HYPEREKPLEXIA 149400 Tags
Green Green List (high evidence)	SLC6A8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes X-LINKED CREATINE DEFICIENCY SYNDROME 300352 Tags
Green Green List (high evidence)	SLC9A6	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 Tags
Green Green List (high evidence)	SLX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 Tags
Green Green List (high evidence)	SMAD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643 Tags
Green Green List (high evidence)	SMAD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JUVENILE POLYPOSIS SYNDROME 174900 MYHRE SYNDROME 139210 JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME 175050 Tags watchlist
Green Green List (high evidence)	SMARCA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN SIRIS 135900 NICOLAIDES-BARAITSER SYNDROME 601358 Tags
Green Green List (high evidence)	SMARCA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes COFFIN SIRIS 135900 RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 Tags
Green Green List (high evidence)

DDG2P (Version 3.2)

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1922 reviewed, 1194 green

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