Paroxysmal central nervous system disorders
Gene: MT-ATP8
Comment on list classification: Demoted MT-ATP8 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:04 p.m. | Last Modified: 9 Sep 2019, 3:04 p.m.
Panel Version: 0.54
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 paroxysmal? Not relevantCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MITOCHONDRIAL
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Gene: mt-atp8 has been classified as Red List (Low Evidence).
Gene: mt-atp8 has been classified as Red List (Low Evidence).
Source NHS GMS was added to MT-ATP8.
Source London North GLH was added to MT-ATP8.
Source Wessex and West Midlands GLH was added to MT-ATP8.
gene: MT-ATP8 was added gene: MT-ATP8 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL