Paroxysmal central nervous system disorders
Gene: SEPT9
Comment on list classification: Demoted SEPT9 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:45 p.m. | Last Modified: 9 Sep 2019, 3:45 p.m.
Panel Version: 0.86
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
Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy
Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9Created: 7 May 2019, 11:54 a.m.
Gene: sept9 has been classified as Red List (Low Evidence).
Gene: sept9 has been classified as Red List (Low Evidence).
Source NHS GMS was added to SEPT9.
Source London North GLH was added to SEPT9.
Source Wessex and West Midlands GLH was added to SEPT9.
Tag new-gene-name tag was added to gene: SEPT9.
Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9
gene: SEPT9 was added gene: SEPT9 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPT9 were set to 19451530; 21556032; 16186812 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy