1. Panels
  2. Leukodystrophy - paediatric
  3. GFPT1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Leukodystrophy - paediatric

Gene: GFPT1

Amber List (moderate evidence)
GFPT1 (glutamine--fructose-6-phosphate transaminase 1)
EnsemblGeneIds (GRCh38): ENSG00000198380
EnsemblGeneIds (GRCh37): ENSG00000198380
OMIM: 138292, Gene2Phenotype
GFPT1 is in 10 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

4 individuals from 2 unrelated families who presented with proximal muscle weakness and features suggestive of mitochondrial disease. MRI was suggestive of a mitochondrial leukoencephalopathy. Need additional unrelated cases with leukoencephalopathy as a feature of the condition to upgrade to green.
Sources: Expert list
Created: 18 Jan 2020, 7:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy

Publications

Created: 18 Jan 2020, 7:45 a.m.

Panel version: 0.20

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four individuals from two unrelated families with bi-allelic variants in this gene and a leukoencephalopathy reported as well as myasthenia (please note that bi-allelic variants in this gene are a well established cause of congenital myasthenic syndrome).
Sources: Literature
Created: 18 Dec 2019, 3:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy

Publications

Created: 18 Dec 2019, 3:57 a.m.

Panel version: Imported from Leukodystrophy panel version 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates 610542
  • Leukoencephalopathy
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gfpt1 has been classified as Amber List (Moderate Evidence).

18 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: GFPT1 was added gene: GFPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 30635494 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates 610542; Leukoencephalopathy Review for gene: GFPT1 was set to AMBER