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 3.1
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
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, ?Myasthenic syndrome, congenital, 15, without tubular aggregates, 616227
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)