Arthrogryposis

Gene: ATP1A2

The rating of this gene has been updated following NHS Genomic Medicine Service approval

Created: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.

Panel Version: 3.150

Comment on list classification: Two additional unrelated families reported by Chatron et al PMID: 31608932 with affected fetuses described as having polymicrogyria, microcephaly, polyhydramnios and FADS. Two individuals from one family also presented hand contractures and rocker-bottom feet, bringing the total to 3 unrelated families with relevant phenotype.

As number of cases now reaches threshold for inclusion as diagnostic-grade, ATP1A2 should be promoted to Green at the next GMS panel update (added 'for-review' tag)

Created: 18 Jan 2021, 10:59 a.m. | Last Modified: 18 Jan 2021, 10:59 a.m.

Panel Version: 3.44

Comment on list classification: Rated as Amber: 2 unrelated families in PMID:30690204 with arthrogryposis amongst their postnatal phenotypes. Further cases required for diagnostic rating.

Created: 7 May 2020, 4:10 p.m. | Last Modified: 7 May 2020, 4:10 p.m.

Panel Version: 3.11

Added to panel based on PMID:30690204 (Monteiro et al., 2020) who 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.
Sources: Literature

Created: 7 May 2020, 4:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency

Publications

• 30690204