GFPT1

glutamine--fructose-6-phosphate transaminase 1
OMIM: 138292
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
Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542, Congenital myasthenic syndrome 12, MONDO:0012518
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
Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)