ALG8

ALG8, alpha-1,3-glucosyltransferase
OMIM: 608103
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ih 608104, Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation)
Component of the following Super Panels:
  • - Cystic renal disease
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
cystic liver disease, cystic kidney disease, Polycystic liver disease 3 with or without kidney cysts, 617874
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ih OMIM:608104, ALG8-CDG MONDO:0011969
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ih 608104
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG8-CDG
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ih, 608104, ALG8-CDG (CDG-IH)
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Ih 608104
R-numbers: R173
Signed-off version 1.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Polycystic liver disease 3 with or without kidney cysts, OMIM:617874