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Intellectual disability

Gene: SCN3A

Green List (high evidence)

SCN3A (sodium voltage-gated channel alpha subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New Green gene added by external expert review, ID is part of the phenotype and was reported in all affected cases. From external review comment and publication to support gene-disease association this gene has been made Green
Created: 26 Jul 2018, 10:14 a.m.
Zaman et al (2018) PMID:29466837 Three heterozygous de novo missense variants described in 4 cases (3 unrelated). All patients presented with treatment-resistant epilepsy in the first year of life, severe to profound intellectual disability.
Created: 26 Jul 2018, 10:12 a.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four individuals from unrelated families with de novo missense variants in this gene have been reported in the literature. ID is part of the phenotype. OMIM phenotype is: Epileptic encephalopathy, early infantile, 62
Created: 22 Jun 2018, 2:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
617938

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Epileptic encephalopathy, early infantile, 62, 617938
  • intellectual disability
OMIM
182391
Clinvar variants
Variants in SCN3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SCN3A.

26 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: scn3a has been classified as Green List (High Evidence).

26 Jul 2018, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SCN3A were set to Epileptic encephalopathy, early infantile, 62, 617938; intellectual disability

22 Jun 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

SCN3A was added to Intellectual disability panel. Sources: Literature

22 Jun 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

SCN3A was created by Zornitza Stark