Pain syndromes

Gene: SEPT9

Green List (high evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for SEPT9 is SEPTIN9
Created: 7 May 2019, 11:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Amyotrophy, hereditary neuralgic; 162100

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary neuralgic amyotrophy

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hereditary neuralgic amyotrophy
  • Amyotrophy, hereditary neuralgic, 162100
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: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SEPT9 were set to Hereditary neuralgic amyotrophy; Amyotrophy, hereditary neuralgic, 162100

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SEPT9 were set to Hereditary neuralgic amyotrophy;Amyotrophy, hereditary neuralgic; 162100

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SEPT9 was created by BRIDGE

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SEPT9 was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene