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Clefting disorders
Gene: SEPT9

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)

I don't know

Only one report identified from 2008 of dysmorphic features including cleft palate co-occurring with HNA.

New gene name is SEPTIN9, also note founder variants as well as 5'UTR variants and intragenic duplications reported.
Created: 13 May 2021, 8:19 p.m. | Last Modified: 13 May 2021, 8:19 p.m.

Panel Version: 0.115

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophy, hereditary neuralgic, MIM# 162100

Publications

Created: 13 May 2021, 8:19 p.m.
Last Modified: 13 May 2021, 8:19 p.m.
Panel version: 0.115

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber

Phenotypes

HNA
Amyotrophy, hereditary neuralgic, MIM# 162100

Tags

SV/CNV 5'UTR founder new gene name

OMIM

Clinvar variants

Variants in SEPT9

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sept9 has been classified as Amber List (Moderate Evidence).

13 May 2021, Gel status: 2

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

13 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SEPT9 were changed from HNA; AMYOTROPHY, HEREDITARY NEURALGIC to HNA; Amyotrophy, hereditary neuralgic, MIM# 162100

13 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SEPT9 were set to

13 May 2021, Gel status: 2

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 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sept9 has been classified as Amber List (Moderate Evidence).

16 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SEPT9 was added gene: SEPT9 was added to Clefting_GEL. Sources: 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 HNA; AMYOTROPHY, HEREDITARY NEURALGIC