Malformations of cortical development
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 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. 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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Polymicrogyria, MONDO:0000087
- epilepsy, MONDO:0005027
- developmental delay
- Developmental and epileptic encephalopathy 99, OMIM:619606
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Paroxysmal central nervous system disorders
- Auditory Neuropathy Spectrum Disorde
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Hereditary ataxia
- Brain channelopathy
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Malformations of cortical development
- Early onset or syndromic epilepsy
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: ATP1A3.
Added New Source, Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)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)
Set Phenotypes
Ivone Leong (Genomics England Curator)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
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: atp1a3 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ATP1A3 were set to 33762331
Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: ATP1A3.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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