Cerebral Palsy
Gene: ATP1A3EnsemblGeneIds (GRCh38): ENSG00000105409
EnsemblGeneIds (GRCh37): ENSG00000105409
OMIM: 182350, Gene2Phenotype
ATP1A3 is in 16 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional 5 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).Created: 27 May 2024, 3:31 a.m. | Last Modified: 27 May 2024, 3:31 a.m.
Panel Version: 1.193
3 individuals with pathogenic or likely pathogenic variants (2 confirmed de novo) reported in large retrospective cohort study of CP (PMID 33528536). One additional individual with "atypical CP" reported with a pathogenic variant (PMID 30542205). Developmental and epileptic encephalopathy 99 (MIM# 619606) is a recently added gene-disease association in OMIM based on findings from PMID 33880529, with quadriparesis or dyskinetic movement disorders reported in most patients.Created: 15 Jul 2022, 8:09 a.m. | Last Modified: 15 Jul 2022, 8:09 a.m.
Panel Version: 1.31
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 99 (MIM# 619606)
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The disorders associated with variants in this gene tend to have episodic symptoms, insufficient overlap with CP.
Sources: Expert ReviewCreated: 18 Sep 2021, 2:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Alternating hemiplegia of childhood 2, MIM# 614820
- CAPOS syndrome, MIM# 601338
- Dystonia-12, MIM# 128235
- OMIM
- 182350
- Clinvar variants
- Variants in ATP1A3
- Penetrance
- None
- 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
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 classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP1A3 was added gene: ATP1A3 was added to Cerebral Palsy. Sources: Expert Review Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP1A3 were set to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235 Review for gene: ATP1A3 was set to GREEN