Pain syndromes
Gene: SEPT9

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

4 reviews

Eleanor Williams (Genomics England Curator)

Contacted external reviewer directly to reply regarding the issue around gene symbols.
Created: 18 May 2022, 2:21 p.m. | Last Modified: 18 May 2022, 2:21 p.m.

Panel Version: 1.12

Created: 18 May 2022, 2:21 p.m.
Last Modified: 18 May 2022, 2:21 p.m.
Panel version: 1.12

Andrea Haworth (ACGS, Congenica)

Dear PanelApp-a request related to gene name. Can you update the gene name to SEPTIN9 as per HGNC-it gets around the autoformatting to Sept-09 in .xls etc. Thanks
Created: 3 May 2022, 12:12 p.m. | Last Modified: 3 May 2022, 12:12 p.m.

Panel Version: 1.12

Created: 3 May 2022, 12:12 p.m.
Last Modified: 3 May 2022, 12:12 p.m.
Panel version: 1.12

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

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 1.4

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

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

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