Paroxysmal central nervous system disorders
Gene: PRDM12
Comment on list classification: Demoted PRDM12 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:17 p.m. | Last Modified: 9 Sep 2019, 3:17 p.m.
Panel Version: 0.57
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
Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Gene: prdm12 has been classified as Red List (Low Evidence).
Gene: prdm12 has been classified as Red List (Low Evidence).
Source NHS GMS was added to PRDM12.
Source London North GLH was added to PRDM12.
Source Wessex and West Midlands GLH was added to PRDM12.
Added phenotypes Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8 for gene: PRDM12
gene: PRDM12 was added gene: PRDM12 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRDM12 were set to 26975306; 26005867 Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Hereditary sensory and autonomic neuropathy type VIII; HSAN 8