Genomics England
GMS Panels
Panels
Genes and Entities

ALG11

ALG11, alpha-1,2-mannosyltransferase
OMIM: 613666
PanelMode of inheritanceDetails
5 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 8.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ip 613661, ALG11-CDG (Disorders of protein N-glycosylation)
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG11-CDG 319490
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ip
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ip 613661, ALG11-CDG (CDG-IP)
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALG11-CDG (Disorders of protein N-glycosylation), Congenital disorder of glycosylation, type Ip 613661