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  2. Hereditary Neuropathy_CMT - isolated
  3. SEPT9
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Hereditary Neuropathy_CMT - isolated

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)

Comment when marking as ready: New HGNC approved name is SEPTIN9.
Created: 13 May 2021, 8:10 p.m. | Last Modified: 13 May 2021, 8:10 p.m.
Panel Version: 0.170
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.
Created: 13 May 2021, 8:07 p.m. | Last Modified: 13 May 2021, 8:07 p.m.
Panel Version: 0.167

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophy, hereditary neuralgic, MIM# 162100

Publications

Created: 13 May 2021, 8:07 p.m.
Last Modified: 13 May 2021, 8:07 p.m.
Panel version: 0.167

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Amyotrophy, hereditary neuralgic, MIM# 162100
  • HMSN
Tags
SV/CNV 5'UTR founder new gene name
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

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 May 2021, Gel status: 3

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SEPT9. Tag 5'UTR tag was added to gene: SEPT9. Tag founder tag was added to gene: SEPT9.

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 Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEPT9 were changed from Amyotrophy, hereditary neuralgic; HMSN to Amyotrophy, hereditary neuralgic, MIM# 162100; HMSN

13 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEPT9 were set to

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SEPT9 was added gene: SEPT9 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic; HMSN