ALG8

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

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ALG8 in Congenital Disorders of Glycosylation Level 2: Metabolic disorders Version 1.44 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104
Green ALG8 in Hydrops fetalis Level 2: Dysmorphic and congenital abnormality syndromes Version 0.313	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Congenital disorder of glycosylation, type Ih, MIM#608104
Green ALG8 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Green ALG8 in Renal Macrocystic Disease Level 2: Renal and urinary tract disorders Version 0.69 Component of the following Super Panels: Kidneyome_SuperPanel Renal Cystic Disease_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Green ALG8 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104
Green ALG8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104
Red ALG8 in Lymphoedema_syndromic Level 3: Lymphatic Disorders Level 2: Cardiovascular disorders Version 0.12 Component of the following Super Panels: Vascular Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list
Green ALG8 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ih, 608104 (3)
Green ALG8 in Polycystic liver disease Level 2: Gastroenterological disorders Version 1.8 Component of the following Super Panels: Liverome Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic liver disease 3 with or without kidney cysts, MIM# 617874
Green ALG8 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ih
Green ALG8 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104
Green ALG8 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Congenital disorder of glycosylation, type Ih, 608104 (3)
Red ALG8 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104