Malformations of cortical development
Gene: SCN3A
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
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
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
Tag Q4_21_rating was removed from gene: SCN3A.
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)
Gene: scn3a has been classified as Amber List (Moderate Evidence).
Tag Q4_21_rating tag was added to gene: SCN3A.
Publications for gene: SCN3A were set to 32515017; 30146301
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
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