Paroxysmal central nervous system disorders
Gene: ATP2A1
Comment on list classification: Demoted ATP2A1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:41 p.m. | Last Modified: 9 Sep 2019, 2:41 p.m.
Panel Version: 0.31
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brody myopathy, 601003
Gene: atp2a1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ATP2A1 were changed from Brody myopathy 601003 to Brody myopathy, 601003
Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193
Gene: atp2a1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to ATP2A1.
Source London North GLH was added to ATP2A1.
Source Wessex and West Midlands GLH was added to ATP2A1.
Added phenotypes Brody myopathy 601003 for gene: ATP2A1
gene: ATP2A1 was added gene: ATP2A1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP2A1 were set to 9367679; 884119; 8841193 Phenotypes for gene: ATP2A1 were set to Brody myopathy 601003