Paroxysmal central nervous system disorders

Gene: SEPT9

Red List (low evidence)

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

4 reviews

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

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted SEPT9 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:45 p.m. | Last Modified: 9 Sep 2019, 3:45 p.m.
Panel Version: 0.86
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

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

Phenotypes
Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy

Louise Daugherty (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Amyotrophy, hereditary neuralgic, 162100
  • Hereditary neuralgic amyotrophy
Tags
new-gene-name
OMIM
604061
Clinvar variants
Variants in SEPT9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sept9 has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sept9 has been classified as Red List (Low Evidence).

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SEPT9.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to SEPT9.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SEPT9.

7 May 2019, Gel status: 4

Added Tag

Louise Daugherty (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SEPT9 was added gene: SEPT9 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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 19451530; 21556032; 16186812 Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic, 162100; Hereditary neuralgic amyotrophy