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Molecular autopsy

Gene: GFPT1

Green List (high evidence)
GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 8 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542
  • Congenital myasthenic sydrome (Disorders of protein N-glycosylation)
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation) for gene: GFPT1

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GFPT1 was added gene: GFPT1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 27604308 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542; Congenital myasthenic sydrome (Disorders of protein N-glycosylation)