ALG14

ALG14, UDP-N-acetylglucosaminyltransferase subunit
OMIM: 612866
PanelMode of inheritanceDetails
4 panels
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)
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
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
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)