Paroxysmal central nervous system disorders
Gene: RYR1
Comment on list classification: Demoted RYR1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:22 p.m. | Last Modified: 9 Sep 2019, 3:22 p.m.
Panel Version: 0.65
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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central core disease of muscle, 117000
Gene: ryr1 has been classified as Red List (Low Evidence).
Phenotypes for gene: RYR1 were changed from to Central core disease of muscle, 117000
Gene: ryr1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to RYR1.
Source London North GLH was added to RYR1.
Source Wessex and West Midlands GLH was added to RYR1.
gene: RYR1 was added gene: RYR1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal