1. Panels
  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. PGK1
STRs in panel
Prev Next
Regions in panel
Prev Next

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: PGK1

Red List (low evidence)
PGK1 (phosphoglycerate kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000102144
EnsemblGeneIds (GRCh37): ENSG00000102144
OMIM: 311800, Gene2Phenotype
PGK1 is in 13 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, 4:37 p.m. | Last Modified: 28 Nov 2019, 4:37 p.m.
Panel Version: 1.132
Created: 28 Nov 2019, 4:37 p.m.
Last Modified: 28 Nov 2019, 4:37 p.m.
Panel version: 1.132

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

PGK1 deficinecy reported in some cases associated with exercise induced myoglobinuria
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Created: 21 Oct 2019, 1:27 p.m.
Last Modified: 21 Oct 2019, 1:27 p.m.
Panel version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Phosphoglycerate kinase 1 deficiency, 300653

Publications

Created: 17 Apr 2019, 12:40 p.m.

Panel version: 1.17

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Phosphoglycerate kinase 1 deficiency, 300653
OMIM
311800
Clinvar variants
Variants in PGK1
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: pgk1 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 PGK1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PGK1.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PGK1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 for gene: PGK1 Publications for gene PGK1 were changed from to 6933565

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PGK1 was added gene: PGK1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: PGK1 was set to