Limb girdle muscular dystrophyGene: ATP2A1
Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:30 p.m. | Last Modified: 28 Nov 2019, 5:30 p.m.
Panel Version: 1.180
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
Brody myopathy; 9367679
Gene: atp2a1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to ATP2A1.
Source Yorkshire and North East GLH was added to ATP2A1.
Mode of inheritance for gene ATP2A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Brody myopathy, 601003 for gene: ATP2A1 Publications for gene ATP2A1 were changed from to 8841193; 9367679
gene: ATP2A1 was added gene: ATP2A1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ATP2A1 was set to