Polymicrogyria and Schizencephaly
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Eight individuals with de novo variants reported.
PMID 33880529: further 16 individuals reported.Created: 30 Mar 2021, 10:11 a.m. | Last Modified: 8 Jul 2021, 3:36 a.m.
Panel Version: 0.161
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria; epilepsy; developmental delay; epileptic encephalopathy
Publications
Chloe Stutterd (Victorian Clinical Genetics Services)
Sources: LiteratureCreated: 30 Mar 2021, 4:22 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polymicrogyria; epilepsy; developmental delay
Publications
- PMID: 33762331
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Polymicrogyria
- epilepsy
- developmental delay
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Brain Channelopathies
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Mendeliome
- Polymicrogyria and Schizencephaly
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A3 were set to PMID: 33762331
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a3 has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chloe Stutterd (Victorian Clinical Genetics Services)gene: ATP1A3 was added gene: ATP1A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP1A3 were set to PMID: 33762331 Phenotypes for gene: ATP1A3 were set to Polymicrogyria; epilepsy; developmental delay Review for gene: ATP1A3 was set to GREEN