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  2. Likely inborn error of metabolism
  3. GFPT1
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Likely inborn error of metabolism

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • 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

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GFPT1. Source London North GLH was added to GFPT1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

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 Publications for gene GFPT1 were changed from 23569079 to 27604308

16 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 Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 23569079 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542