Recurrent episodic apnoea
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 set to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on classification: This gene should be rated GREEN as it has been implicated in severe apnoea in more than three unrelated cases. These can be found in PMID:29801192, PMID:30011403, PMID:35390560 and PMID:35943757.
Functional studies from mouse models showed that ATP1A3 knockout resulted in perinatal seizure and defective respiratory rhythm generation (PMID:28465228).
This gene has been associated with relevant phenotypes in both OMIM and G2P. In OMIM, developmental and epileptic encephalopathy 99 (MIM #619606) has been associated with apnoea.Created: 2 Jan 2023, 10:58 p.m. | Last Modified: 2 Jan 2023, 10:58 p.m.
Panel Version: 0.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 2, OMIM:614820; CAPOS syndrome, OMIM:601338; Developmental and epileptic encephalopathy 99, OMIM:619606; Dystonia-12, OMIM:128235
Publications
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews.Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Alternating hemiplegia of childhood 2, OMIM:614820
- CAPOS syndrome, OMIM:601338
- Developmental and epileptic encephalopathy 99, OMIM:619606
- Dystonia-12, OMIM:128235
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Auditory Neuropathy Spectrum Disorde
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Brain channelopathy
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, OMIM:614820; CAPOS syndrome, OMIM:601338; Developmental and epileptic encephalopathy 99, OMIM:619606; Dystonia-12, OMIM:128235
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: ATP1A3 were set to
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: atp1a3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: ATP1A3 was added gene: ATP1A3 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: ATP1A3 was set to