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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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm. Multiple founder variants, including p.Arg88Trp. Also note intragenic duplication and 5'UTR variant reported, which may not be detectable by all NGS assays.

New gene name is SEPTIN9.
Created: 13 May 2021, 8:13 p.m. | Last Modified: 13 May 2021, 8:13 p.m.
Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophy, hereditary neuralgic, MIM# 162100

Publications

Created: 13 May 2021, 8:13 p.m.
Last Modified: 13 May 2021, 8:13 p.m.
Panel version: 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amyotrophy, hereditary neuralgic, 162100
  • Hereditary neuralgic amyotrophy
OMIM
604061
Clinvar variants
Variants in SEPT9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sept9 has been classified as Green List (High Evidence).

13 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SEPT9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy for gene: SEPT9

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEPT9 was added gene: SEPT9 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SEPT9 were set to 21556032; 16186812; 19451530 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy