Malformations of cortical development
Gene: SCN3AEnsemblGeneIds (GRCh38): ENSG00000153253
EnsemblGeneIds (GRCh37): ENSG00000153253
OMIM: 182391, Gene2Phenotype
SCN3A is in 5 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 11:35 a.m. | Last Modified: 1 Feb 2023, 11:35 a.m.
Panel Version: 3.11
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (Strong). PMID: 34081427 reports that 31/38 (82%) cases have malformation of cortical development. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Dec 2021, 3:18 p.m. | Last Modified: 6 Dec 2021, 3:18 p.m.
Panel Version: 2.106
Zornitza Stark (Australian Genomics)
Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017
Sources: Expert listCreated: 28 Aug 2020, 2:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria; malformations of cortical development; epilepsy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Polymicrogyria, MONDO:0000087
- malformations of cortical development
- epilepsy, MONDO:0005027
- Developmental and epileptic encephalopathy 62, OMIM:617938
- OMIM
- 182391
- Clinvar variants
- Variants in SCN3A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: SCN3A.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to SCN3A. Source NHS GMS was added to SCN3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: scn3a has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: SCN3A.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: SCN3A were set to 32515017; 30146301
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SCN3A were changed from Polymicrogyria; malformations of cortical development; epilepsy to Polymicrogyria, MONDO:0000087; malformations of cortical development; epilepsy, MONDO:0005027; Developmental and epileptic encephalopathy 62, OMIM:617938
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: SCN3A was added gene: SCN3A was added to Malformations of cortical development. Sources: Expert list Mode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN3A were set to 32515017; 30146301 Phenotypes for gene: SCN3A were set to Polymicrogyria; malformations of cortical development; epilepsy Review for gene: SCN3A was set to GREEN gene: SCN3A was marked as current diagnostic