Hydrops fetalis
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two further families reported with this association in PMID 31608932Created: 2 Oct 2020, 11:49 p.m. | Last Modified: 2 Oct 2020, 11:49 p.m.
Panel Version: 0.197
Comment when marking as ready: This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.Created: 30 Dec 2019, 3:50 a.m. | Last Modified: 30 Dec 2019, 3:50 a.m.
Panel Version: 0.45
Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal.Created: 30 Dec 2019, 3:48 a.m. | Last Modified: 30 Dec 2019, 3:48 a.m.
Panel Version: 0.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602
- hydrops fetalis
- microcephaly
- arthrogryposis
- extensive cortical malformations
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Microcephaly
- Brain Channelopathies
- BabyScreen+ newborn screening
- Alternating Hemiplegia and Hemiplegic Migraine
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fetal anomalies
- Additional findings_Paediatric
- Ataxia - adult onset
- Arthrogryposis
- Mendeliome
- Polymicrogyria and Schizencephaly
- Cerebral Palsy
- Skeletal Muscle Channelopathies
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602; hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A2 were set to 30690204
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp1a2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP1A2 were changed from hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ATP1A2 were changed from to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A2 were set to 30690204
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ATP1A2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ATP1A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP1A2 was added gene: ATP1A2 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ATP1A2 was set to Unknown