Paroxysmal central nervous system disorders
Gene: SPTLC1
Comment on list classification: Demoted SPTLC1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:29 p.m. | Last Modified: 9 Sep 2019, 3:29 p.m.
Panel Version: 0.75
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400
Gene: sptlc1 has been classified as Red List (Low Evidence).
Gene: sptlc1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to SPTLC1.
Source London North GLH was added to SPTLC1.
Source Wessex and West Midlands GLH was added to SPTLC1.
Added phenotypes HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA for gene: SPTLC1
gene: SPTLC1 was added gene: SPTLC1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SPTLC1 were set to 11242114; 15037712; 11242106 Phenotypes for gene: SPTLC1 were set to HSAN 1; Neuropathy, hereditary sensory and autonomic, type IA, 162400; Hereditary sensory neuropathy type IA