Paroxysmal central nervous system disorders
Gene: ATP7B
Demoted ATP7B from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:42 p.m. | Last Modified: 9 Sep 2019, 2:42 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
Wilson disease, 277900
Gene: atp7b has been classified as Red List (Low Evidence).
Phenotypes for gene: ATP7B were changed from Wilson disease 277900 to Wilson disease, 277900
Gene: atp7b has been classified as Red List (Low Evidence).
Source NHS GMS was added to ATP7B.
Source London North GLH was added to ATP7B.
Source Wessex and West Midlands GLH was added to ATP7B.
Added phenotypes Wilson disease 277900 for gene: ATP7B
gene: ATP7B was added gene: ATP7B was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900