Recurrent episodic apnoea
Gene: ATP1A3
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
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
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
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
Publications for gene: ATP1A3 were set to
Mode of inheritance for gene: ATP1A3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: atp1a3 has been classified as Green List (High Evidence).
gene: ATP1A3 was added gene: ATP1A3 was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: ATP1A3 was set to