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  3. SCN9A
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Autism

Gene: SCN9A

Green List (high evidence)
SCN9A (sodium voltage-gated channel alpha subunit 9)
EnsemblGeneIds (GRCh38): ENSG00000169432
EnsemblGeneIds (GRCh37): ENSG00000169432
OMIM: 603415, Gene2Phenotype
SCN9A is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple phenotypes related to seizure disorders and neuropathies, but ID not a key feature.
Created: 10 Dec 2019, 5:48 a.m. | Last Modified: 10 Dec 2019, 5:48 a.m.
Panel Version: 0.1147

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863; HSAN2D, autosomal recessive, MIM#243000

Created: 10 Dec 2019, 5:48 a.m.
Last Modified: 10 Dec 2019, 5:48 a.m.
Panel version: Imported from Intellectual disability, syndromic and non-syndromic_GHQ_VCGS panel version 0.1147

Details

Mode of Inheritance
Unknown
Sources
  • Genetic Health Queensland
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
603415
Clinvar variants
Variants in SCN9A
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN9A was added gene: SCN9A was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SCN9A was set to Unknown