Malformations of cortical development
Gene: ATP1A3
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. PMID:33880529 describes additional cases of patients with variants in ATP1A3 who have polymicrogyria. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 6 Dec 2021, 2 p.m. | Last Modified: 6 Dec 2021, 2 p.m.
Panel Version: 2.102
Eight individuals with de novo variants reported and a phenotype distinct from those previously reported in association with this gene.
Sources: LiteratureCreated: 17 Apr 2021, 1:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria; epilepsy; developmental delay
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q4_21_rating was removed from gene: ATP1A3.
Source Expert Review Green was added to ATP1A3. Source NHS GMS was added to ATP1A3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; epilepsy; developmental delay to Polymicrogyria, MONDO:0000087; epilepsy, MONDO:0005027; developmental delay; Developmental and epileptic encephalopathy 99, OMIM:619606
Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Publications for gene: ATP1A3 were set to 33762331
Tag Q4_21_rating tag was added to gene: ATP1A3.
gene: ATP1A3 was added gene: ATP1A3 was added to Malformations of cortical development. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to 33762331 Phenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay Review for gene: ATP1A3 was set to GREEN gene: ATP1A3 was marked as current diagnostic