Paroxysmal central nervous system disorders
Gene: NTRK1
Comment on list classification: Demoted NTRK1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:08 p.m. | Last Modified: 9 Sep 2019, 3:08 p.m.
Panel Version: 0.56
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
Insensitivity to pain, congenital, with anhidrosis (Hereditary sensory and autonomic neuropathy IV), 256800
Gene: ntrk1 has been classified as Red List (Low Evidence).
Gene: ntrk1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to NTRK1.
Source London North GLH was added to NTRK1.
Source Wessex and West Midlands GLH was added to NTRK1.
Added phenotypes HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800 for gene: NTRK1
gene: NTRK1 was added gene: NTRK1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NTRK1 were set to 11668614; 8696348; 18077166 Phenotypes for gene: NTRK1 were set to HSAN 4; Hereditary sensory neuropathy type IV; Insensitivity to pain, congenital, with anhidrosis, 256800