Fetal hydrops
Gene: ATP1A2EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 19 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on list classification: Added to panel by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families with Fetal hydrops reported in PMID:30690204 (3 individuals). Therefore phenotype is relevant to panel, and rated Amber awaiting further cases.Created: 7 May 2020, 2:58 p.m. | Last Modified: 7 May 2020, 2:58 p.m.
Panel Version: 1.21
PMID:30690204 (Monteiro et al., 2020) describe 3 newborns from 2 unrelated families who died neontally, presenting in utero with fetal hydrops, seizures and polyhydramnios. At birth they had arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic LOF variants in ATP1A2 were found upon WES.Created: 7 May 2020, 2:57 p.m. | Last Modified: 7 May 2020, 2:57 p.m.
Panel Version: 1.20
Zornitza Stark (Australian Genomics)
Three individuals from two unrelated families reported with bi-allelic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. Please note this is a distinct phenotype from the mono-allelic variants associated with alternating hemiplegia.
Sources: Expert listCreated: 30 Dec 2019, 4:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- hydrops fetalis
- microcephaly
- arthrogryposis
- extensive cortical malformations
- OMIM
- 182340
- Clinvar variants
- Variants in ATP1A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Early onset or syndromic epilepsy
- DDG2P
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal muscle channelopathy
- Fetal hydrops
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Early onset dystonia
- Severe microcephaly
- Brain channelopathy
- Skeletal Muscle Channelopathies
- Familial cerebral small vessel disease
- Arthrogryposis
- Adult onset dystonia, chorea or related movement disorder
- Fetal anomalies
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ATP1A2 was added gene: ATP1A2 was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations gene: ATP1A2 was marked as current diagnostic