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Arthrogryposis

Gene: ATP1A2

Amber List (moderate evidence)

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000018625
EnsemblGeneIds (GRCh37): ENSG00000018625
OMIM: 182340, Gene2Phenotype
ATP1A2 is in 17 panels

1 review

Rebecca Foulger (Genomics England curator)

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

History Filter Activity

7 May 2020, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: atp1a2 has been classified as Amber List (Moderate Evidence).

7 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ATP1A2 was added gene: ATP1A2 was added to Arthrogryposis. Sources: Literature 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 arthrogryposis, microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency