Paroxysmal central nervous system disorders
Gene: PYGM
Comment on list classification: Demoted PYGM from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:20 p.m. | Last Modified: 9 Sep 2019, 3:20 p.m.
Panel Version: 0.62
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
McArdle disease, 232600
Gene: pygm has been classified as Red List (Low Evidence).
Gene: pygm has been classified as Red List (Low Evidence).
Source NHS GMS was added to PYGM.
Source London North GLH was added to PYGM.
Source Wessex and West Midlands GLH was added to PYGM.
Added phenotypes McArdle disease, 232600 for gene: PYGM
gene: PYGM was added gene: PYGM was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McArdle disease, 232600