Limb girdle muscular dystrophy

Gene: GFPT1

Red List (low evidence)

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:24 p.m. | Last Modified: 28 Nov 2019, 5:24 p.m.
Panel Version: 1.171
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:24 p.m. | Last Modified: 28 Nov 2019, 5:24 p.m.
Panel Version: 1.170

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

CMS gene.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myasthenia, congenital, 12, with tubular aggregates, 610542
  • Congenital myasthenic syndrome
OMIM
138292
Clinvar variants
Variants in GFPT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gfpt1 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gfpt1 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: gfpt1 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GFPT1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to GFPT1.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates, 610542 to Myasthenia, congenital, 12, with tubular aggregates, 610542; Congenital myasthenic syndrome

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GFPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Myasthenia, congenital, 12, with tubular aggregates, 610542 for gene: GFPT1 Publications for gene GFPT1 were changed from to 21310273

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: GFPT1 was added gene: GFPT1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: GFPT1 was set to