Genomics England
GMS Panels
Panels
Genes and Entities

GFPT1

glutamine--fructose-6-phosphate transaminase 1
OMIM: 138292
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
Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
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
Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542, Congenital myasthenic syndrome 12, MONDO:0012518
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
Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542, Congenital myasthenic sydrome (Disorders of protein N-glycosylation)