Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PGK1Comment 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
PGK1 deficinecy reported in some cases associated with exercise induced myoglobinuriaCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Phosphoglycerate kinase 1 deficiency, 300653
Publications
Gene: pgk1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to PGK1.
Source Yorkshire and North East GLH was added to PGK1.
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
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