Skeletal muscle channelopathy
Gene: ATP2A1Comment on publications: added additional publications to support Green rating. NB: SERCA1 is the previous gene symbol for ATP1A2Created: 8 Nov 2019, 2:57 p.m. | Last Modified: 8 Nov 2019, 2:57 p.m.
Panel Version: 0.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brody myopathy, 601003
Publications
Phenotypes for gene: ATP2A1 were changed from Brody myopathy, 601003 to Brody myopathy OMIM:601003
Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158; 18056581
Publications for gene: ATP2A1 were set to 8841193; 30423015; 15286158,18056581
Publications for gene: ATP2A1 were set to 8841193
Publications for gene ATP2A1 were changed from to 8841193
Source NHS GMS 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
Source Expert Review Green was added to ATP2A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ATP2A1 was added gene: ATP2A1 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: ATP2A1 was set to