Hereditary neuropathy or pain disorder
Gene: SEPT9
One patient in Bristol with likely pathogenic variant and bilateral brachial neuritis. PMID: 16186812 - first paper, PMID: 19451530 - summary of patients with reported variants in the literature. Includes several pedigrees showing segregationCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9Created: 18 Dec 2019, 3:23 p.m. | Last Modified: 18 Dec 2019, 3:23 p.m.
Panel Version: 1.0
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9Created: 7 May 2019, 11:53 a.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.Created: 5 May 2016, 9:38 a.m.
Neuralgic amyotrophyCreated: 9 Dec 2015, 4:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neuralgic amyotrophyCreated: 8 Dec 2015, 3:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag new-gene-name tag was added to gene: SEPT9.
gene: SEPT9 was added gene: SEPT9 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,UKGTN,Expert Review Green,South West GLH Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SEPT9 were set to 16186812; 19451530 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy