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  3. GFPT1
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

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 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

15 unrelated families with congenital myasthenia caused by bi-allelic variants in this gene.

PMID 30635494: 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. Amber for leukodystrophy.
Created: 24 Oct 2020, 8:45 a.m. | Last Modified: 24 Oct 2020, 8:45 a.m.
Panel Version: 0.5093

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia, congenital, 12, with tubular aggregates, 610542; Limb-girdle congenital myasthenic syndrome; Leukoencephalopathy

Publications

Created: 24 Oct 2020, 8:45 a.m.
Last Modified: 24 Oct 2020, 8:45 a.m.
Panel version: Imported from Myopathy - adult onset panel version Imported from Mendeliome panel version 0.5093

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: Variable age of onset reported.
Created: 24 Feb 2020, 5:39 a.m. | Last Modified: 24 Feb 2020, 5:39 a.m.
Panel Version: 0.39
>3 unrelated cases reported with myopathic features, plus a mouse model
Sources: Expert Review
Created: 24 Feb 2020, 5:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenia, congenital, 12, with tubular aggregates MIM#610542

Publications

Created: 24 Feb 2020, 5:39 a.m.

Panel version: Imported from Myopathy - adult onset panel version 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates MIM#610542
  • Limb-girdle congenital myasthenic syndrome
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gfpt1 has been classified as Green List (High Evidence).

17 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gfpt1 has been classified as Green List (High Evidence).

14 Apr 2023, 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 Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 28712002; 29905857; 31449669 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Limb-girdle congenital myasthenic syndrome