Description
Newborns gene list

653 Entities

0 reviewed, 653 green

List Entity Reviews Mode of inheritance Details
653 Entitiess
Green Green List (high evidence)
AAAS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCC8
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCC9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCD1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCD4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCG5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ABCG8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ACAD9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ACADM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ACADVL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ACAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ADA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ADA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ADAMTS13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ADAR
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AGPAT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AGRN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AGXT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AHCY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AICDA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AKR1D1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AKT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALAD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALAS2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALDH4A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALDH7A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALDOB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALG14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ALPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AMN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AP3B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APOA5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APOB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APOC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APOE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
APRT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AQP2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ARG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ARPC1B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ARSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ARSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ASL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ASS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ATP6V0A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ATP6V1B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ATP7A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ATP7B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AVP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
AVPR2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BCKDHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BCKDHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BCKDK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BLNK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BMPR1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BRCA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BRCA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BRIP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BSCL2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BSND
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BTD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
BTK
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C17orf62
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C1QA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C1QB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C1QC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C8B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
C9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CA12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CA5A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CACNA1D
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CACNA1H
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CACNA1S
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CAD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CARD11
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CARD14
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CAV1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CAVIN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CBS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD247
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD27
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD320
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD3D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD3E
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD40
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD40LG
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD46
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD70
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD79A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD79B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CD81
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CDCA7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CDKN1C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFH
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFHR1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFP
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CFTR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHD7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHRNA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHRNB1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHRND
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CHRNE
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CIITA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CLCN1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CLCN2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CLCN7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CLCNKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COL13A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COL4A3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COL4A4
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COL4A5
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COLQ
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ8B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
COQ9
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CORO1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CPOX
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CPT1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CPT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CSF3R
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CTLA4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CTNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CTPS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CUBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CUL3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CXCR4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYB561
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYBB
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP11A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP11B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP11B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP17A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP21A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP27B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP2R1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
CYP7B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DBH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DBT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DCLRE1C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DDC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DGAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DMD
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DNAJC12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DNAJC21
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DNASE2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DNMT3B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DOCK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DOCK8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DOK7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DPAGT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DUOX2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
DUOXA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ECHS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
EFL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
EIF2AK3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ELANE
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ENPP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
EPCAM
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ERCC4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ETFA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ETFB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ETFDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
F13A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
F13B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
F8
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
F9
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FAH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FAM111A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCB
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FANCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FECH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FERMT3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FGA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FGB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FGG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FLAD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXI1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FOXP3
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FUCA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
FXYD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
G6PC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
G6PC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GAA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALNS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GALT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GAMT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GATA1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GATA2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GATA4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GATA6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GCDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GCH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GCK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GFI1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GFPT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GGCX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GH1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GHRHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GIF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GLA
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GLIS3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GLRA1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GLRB
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GLUD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GNAS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GOT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GPIHBP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GPR101
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GRHPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GRIN2A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
GUSB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HADH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HADHA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HADHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HAMP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HAX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HBA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HBA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HBB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HCFC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HELLS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HESX1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HFE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HFE2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HIBCH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HK1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HLCS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HMBS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HMGCL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HMGCS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HNF1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HNF4A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HOGA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HOXA11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HSD11B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HSD3B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
HSD3B7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ICOS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IDS
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IDUA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IFIH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IGF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IGFALS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IGHM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IGLL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IGSF1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IKBKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IKBKG
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IKZF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL10RA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL10RB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL1RN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL21
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL21R
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL2RA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL2RB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL2RG
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL36RN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IL7R
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
INS
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IRAK4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IRF2BP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IRF8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IRS4
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ITGB2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ITK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IVD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
IYD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
JAGN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
JAK3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNJ1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNJ11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNJ5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNJ8
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNQ2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KCNT1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KDSR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
KLHL3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LAMTOR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LCK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LDLR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LDLRAP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LEP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LEPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LHX3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LHX4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LIG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LIG4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LIPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LMBRD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LMF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LMNA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LPIN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LRBA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LRP4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LSM11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
LYST
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MAD2L2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MAGED2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MAGT1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MALT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MAN2B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MAP3K14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MC2R
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MCCC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MCCC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MCEE
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MCM4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MECOM
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MEFV
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MLH1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MLYCD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MMAA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MMAB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MMACHC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MMADHC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MNX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MOCS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MPI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MRAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MS4A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MSH2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MSH6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTHFD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTHFR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTHFS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTRR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MTTP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MUSK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MUT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MUTYH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MVK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MYD88
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MYO9A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
MYSM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NAGLU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NAGS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NBN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NCF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NCF2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NCF4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NEUROD1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NEUROG3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NF1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NFKB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NFKB2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NFKBIA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NHEJ1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NIPAL4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NKX2-1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NKX2-2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NLRC4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NLRP12
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NLRP3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NNT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NOD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NPC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NPC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NR0B1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NR3C2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
NR5A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
OAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ORAI1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
OTC
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
OTULIN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
OXCT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PAH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PALB2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PAX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PAX4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PAX8
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PCCA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PCCB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PCSK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PCSK9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PDGFRB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PDSS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PDSS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PDX1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PGM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PGM3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHEX
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHKA1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHKA2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHKB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PHKG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PIK3CA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PIK3CD
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PIK3R1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PKD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PKD2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PKLR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PLCG2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PLG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PLPBP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PMM2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PMS2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PNP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PNPO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
POMC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
POR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
POU1F1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PPOX
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRDX1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PREPL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRKCD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRKDC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PROP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRPS1
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PRRT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PSAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PSPH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PSTPIP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PTF1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PTPRC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PTS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
PYGL
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
QDPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAB27A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAC2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAG2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RAPSN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RASGRP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RELB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RET
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RFWD3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RFX5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RFX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RFXANK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RFXAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RMRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RNASEH2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RNASEH2B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RNASEH2C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RNPC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RNU7-1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPE65
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL15
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL18
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL27
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL31
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL35
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL35A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS10
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS15A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS17
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS19
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS24
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS26
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS27
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS28
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS29
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
RPS7
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SAMD9L
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SAMHD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SAR1B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SBDS
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCN1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCN2A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCN3A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCN4A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCN8A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCNN1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCNN1B
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SCNN1G
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SERPINA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SERPING1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SFTPC
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SGPL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SH2D1A
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SI
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC12A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC13A5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC16A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC18A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC18A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC19A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC19A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC19A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC22A5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A13
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC25A38
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC26A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC26A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC26A7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC30A10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC30A2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC34A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC35A2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC35C1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC37A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC39A14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC39A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC39A8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC40A1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC46A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC4A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC4A4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC52A2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC52A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC5A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC5A5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC5A6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC5A7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC6A5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC6A6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLC9A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SLX4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMAD4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMAD9
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMARCD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMN1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SMPD1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SNAP25
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SNX10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SORD
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SOX3
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SP110
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SPR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SPTLC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SPTLC2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SRP54
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STAR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STAT1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STAT3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STIM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STK4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STX11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
STXBP2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SYT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TAT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TAZ
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TBL1X
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TBX19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TCF3
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TCIRG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TCN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TF
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TFR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
THAP11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
THBD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
THRA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TK2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TMEM165
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TNFAIP3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TNFRSF11A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TNFRSF13B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TNFRSF13C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TNFRSF1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TPK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TPO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TPP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TREX1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TRHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TRMU
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TRPM6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TSC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TSC2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TSHB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TSHR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TSR2
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TTC7A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TTPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
TTR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UBE2T
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UCP2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UMPS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UNC13D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UNG
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
UROD
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
USP18
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
VAMP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
VDR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
VKORC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
VPS45
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WAS
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WDR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WDR72
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WFS1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WIPF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WNK1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
WNK4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
XIAP
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ZAP70
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ZBTB24
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
ZNF143
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags

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