Hereditary neuropathy
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
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.
Added phenotypes Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy for gene: SEPT9 Publications for gene SEPT9 were changed from to 16186812; 19451530
Source South West GLH was added to SEPT9.
Source NHS GMS was added to SEPT9.
Source London North GLH was added to SEPT9. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SEPT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy
This gene has been classified as Green List (High Evidence).
SEPT9 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN
SEPT9 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN