Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PHKA1Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.Created: 28 Nov 2019, 4:37 p.m. | Last Modified: 28 Nov 2019, 4:37 p.m.
Panel Version: 1.131
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 4:35 p.m. | Last Modified: 28 Nov 2019, 4:35 p.m.
Panel Version: 1.129
muscle glycogenosis. Raised CK. Differential diagnosis with LGMD.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Gene: phka1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PHKA1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Gene: phka1 has been classified as Green List (High Evidence).
Gene: phka1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to PHKA1.
Source Yorkshire and North East GLH was added to PHKA1.
Mode of inheritance for gene PHKA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Muscle glycogenosis, 300559 for gene: PHKA1 Publications for gene PHKA1 were changed from to 2252364; 7874115
gene: PHKA1 was added gene: PHKA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: PHKA1 was set to