Fetal anomalies
Gene: ATP1A2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.
Panel Version: 1.836
Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 31608932). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)Created: 18 Jan 2021, 10:33 a.m. | Last Modified: 18 Jan 2021, 11:39 a.m.
Panel Version: 1.153
Further to the previous review, there are two more unrelated families reported by Chatron et al PMID: 31608932 with affected fetuses described as having polymicrogyria, microcephaly, polyhydramnios and FADS.
This brings the total to four unrelated families with fetally relevant phenotype.Created: 28 Sep 2020, 1:47 p.m. | Last Modified: 28 Sep 2020, 1:47 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Comment on list classification: Added to panel with Amber review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families reported in PMID:30690204 with a fetally-relevant phenotype (including fetal hydrops). Therefore rated Amber awaiting further cases.Created: 7 May 2020, 2:56 p.m. | Last Modified: 7 May 2020, 2:56 p.m.
Panel Version: 1.54
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, 2:55 p.m. | Last Modified: 7 May 2020, 2:55 p.m.
Panel Version: 1.53
Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia.
Sources: Expert listCreated: 30 Dec 2019, 10:30 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
Tag for-review was removed from gene: ATP1A2.
Source Expert Review Green was added to ATP1A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
Publications for gene: ATP1A2 were set to 30690204
Tag for-review tag was added to gene: ATP1A2.
Gene: atp1a2 has been classified as Amber List (Moderate Evidence).
gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. 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 Review for gene: ATP1A2 was set to AMBER gene: ATP1A2 was marked as current diagnostic