Genes in panel

Hereditary neuropathy

Gene: SEPT9

Green List (high evidence)

SEPT9 (septin 9)
EnsemblGeneIds (GRCh38): ENSG00000184640
EnsemblGeneIds (GRCh37): ENSG00000184640
OMIM: 604061, Gene2Phenotype
SEPT9 is in 6 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

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.

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

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

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.

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SEPT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SEPT9 were set to Amyotrophy, hereditary neuralgic; Neuralgic amyotrophy

5 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPT9 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPT9 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN