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  2. Angelman Rett like syndromes
  3. SCN2A
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Angelman Rett like syndromes

Gene: SCN2A

Green List (high evidence)
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated individuals reported in Rett-like cohorts.
Sources: Expert list
Created: 13 Nov 2020, 9:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 11, MIM# 613721; Rett-like

Publications

Created: 13 Nov 2020, 9:55 a.m.

Panel version: 0.27

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 11, MIM# 613721
  • Rett-like
OMIM
182390
Clinvar variants
Variants in SCN2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn2a has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn2a has been classified as Green List (High Evidence).

13 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN2A was added gene: SCN2A was added to Angelman Rett like syndromes. Sources: Expert list Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to 31105003 Phenotypes for gene: SCN2A were set to Developmental and epileptic encephalopathy 11, MIM# 613721; Rett-like Review for gene: SCN2A was set to GREEN