Genomics England
GMS Panels
Panels
Genes and Entities

ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 612866
PanelMode of inheritanceDetails
4 panels
Green
in Congenital disorders of glycosylation
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
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
R-numbers: R59
Signed-off version 5.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Green
in Likely inborn error of metabolism
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 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)