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Early-onset Parkinson disease

Gene: SCN1A

Green List (high evidence)
SCN1A (sodium voltage-gated channel alpha subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000144285
EnsemblGeneIds (GRCh37): ENSG00000144285
OMIM: 182389, Gene2Phenotype
SCN1A is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Parkinsonian features in adult phenotype.
Created: 19 Jul 2022, 8:41 a.m. | Last Modified: 19 Jul 2022, 8:41 a.m.
Panel Version: 0.166

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dravet syndrome, MIM# 607208

Created: 19 Jul 2022, 8:41 a.m.
Last Modified: 19 Jul 2022, 8:41 a.m.
Panel version: 0.166

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:25 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, Paekinsonism; OMIM 607208

Publications

Created: 17 Jul 2022, 2:25 p.m.

Panel version: 0.134

History Filter Activity

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn1a has been classified as Green List (High Evidence).

19 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN1A were changed from Dravet syndrome; Epilepsy, Paekinsonism; OMIM 607208 to Dravet syndrome, MIM# 607208; Epilepsy, Paekinsonism

19 Jul 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Jul 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn1a has been classified as Green List (High Evidence).

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: SCN1A was added gene: SCN1A was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN1A were set to PMID: 28186331; 24850485 Phenotypes for gene: SCN1A were set to Dravet syndrome; Epilepsy, Paekinsonism; OMIM 607208 Review for gene: SCN1A was set to GREEN