ALG8

ALG8, alpha-1,3-glucosyltransferase
OMIM: 608103, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ALG8 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.50	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ih, MIM#608104
Green ALG8 in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 3.2 Latest signed off version: v3.1 (23 Jun 2022) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Congenital disorder of glycosylation, type Ih 608104 Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Green ALG8 in Ductal plate malformation Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Polycystic Liver Disease 3 (617874) Congenital disorder of glycosylation, type Ih (608104)
Green ALG8 in Polycystic liver disease interim Version 1.23 Latest signed off version: v1.4 (4 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS NHS GMS Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Expert list Phenotypes Polycystic liver disease 3 with or without kidney cysts, OMIM:617874
Green ALG8 in Cystic kidney disease Level 3: Structural renal and urinary tract disease Level 2: Renal and urinary tract disorders Version 3.2 Latest signed off version: v3.1 (23 Jun 2022) Component of the following Super Panels: Cystic renal disease Renal superpanel - broad Renal superpanel - narrow	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes cystic liver disease cystic kidney disease Polycystic liver disease 3 with or without kidney cysts, 617874
Green ALG8 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.514	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ih 608104 Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Green ALG8 in Inborn errors of metabolism Version 3.3 Latest signed off version: v3.2 (23 Jun 2022) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation) Congenital disorder of glycosylation, type Ih 608104
Green ALG8 in Fetal anomalies Version 2.5 Latest signed off version: v2.4 (30 Jun 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ALG8-CDG
Green ALG8 in DDG2P Version 3.2 Latest signed off version: v3.1 (23 Jun 2022) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih OMIM:608104 ALG8-CDG MONDO:0011969
Green ALG8 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 3.2 Latest signed off version: v3.1 (23 Jun 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Wessex and West Midlands GLH NHS GMS Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih 608104
Green ALG8 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 4.5 Latest signed off version: v4.4 (23 Jun 2022) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih, 608104 ALG8-CDG (CDG-IH)
Red ALG8 in Primary lymphoedema Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 3.2 Latest signed off version: v3.1 (23 Jun 2022)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list
Red ALG8 in Childhood onset dystonia or chorea or related movement disorder Version 2.7 Latest signed off version: v2.6 (30 Jun 2022)	review	Not set	Sources Expert Review Red London North GLH
Green ALG8 in Severe Paediatric Disorders Version 1.117	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ih, 608104 Polycystic liver disease 3 with or without kidney cysts, 617874