Fetal hydropsGene: ATP1A2
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
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 list
Created: 30 Dec 2019, 4:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations
Variants in this GENE are reported as part of current diagnostic practice
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
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