Paroxysmal central nervous system disorders
Gene: EXT1
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
Insufficient evidenceCreated: 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
Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Gene: ext1 has been classified as Red List (Low Evidence).
Phenotypes for gene: EXT1 were changed from Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) to Exostoses, multiple, type 1,133700; Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Source NHS GMS was added to EXT1.
Source London North GLH was added to EXT1.
Source Wessex and West Midlands GLH was added to EXT1.
Added phenotypes Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) for gene: EXT1
gene: EXT1 was added gene: EXT1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EXT1 were set to 2788404; Journal Sleep Research (2012), 21(Suppl 1), P891 Phenotypes for gene: EXT1 were set to Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family) Mode of pathogenicity for gene: EXT1 was set to Other - please provide details in the comments