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Hereditary neuropathy
Gene: SEPT9

SEPT9 (septin 9)
EnsemblGeneIds (GRCh38): ENSG00000184640
EnsemblGeneIds (GRCh37): ENSG00000184640
OMIM: 604061, Gene2Phenotype
SEPT9 is in 5 panels

7 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

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 segregation
Created: 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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Louise Daugherty (Genomics England Curator)

I don't know

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 SEPTIN9
Created: 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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from 3 reviewers.
Created: 5 May 2016, 9:38 a.m.

Created: 5 May 2016, 9:38 a.m.

Panel version: 0.113

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Neuralgic amyotrophy
Created: 9 Dec 2015, 4:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 9 Dec 2015, 4:58 p.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Neuralgic amyotrophy
Created: 8 Dec 2015, 3:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 8 Dec 2015, 3:05 p.m.

Panel version: 0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
UKGTN
Expert list

Phenotypes

Amyotrophy, hereditary neuralgic
Neuralgic amyotrophy

Tags

new-gene-name

OMIM

604061

Clinvar variants

Variants in SEPT9

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

7 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: SEPT9.

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy for gene: SEPT9 Publications for gene SEPT9 were changed from to 16186812; 19451530

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SEPT9.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SEPT9.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SEPT9. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 May 2016, Gel status: 4