Hereditary ataxia

Gene: ATP8A2

Red List (low evidence)

ATP8A2 (ATPase phospholipid transporting 8A2)
EnsemblGeneIds (GRCh38): ENSG00000132932
EnsemblGeneIds (GRCh37): ENSG00000132932
OMIM: 605870, Gene2Phenotype
ATP8A2 is in 9 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Single family plus one balanced translocation with neurological phenotype
Created: 11 Jul 2016, 4:25 a.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Looks like only single family
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 1

Set publications

emma baple (Genomics England Curator)

Publications for ATP8A2 were set to PMID: 22892528

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ATP8A2 was added to Hereditary ataxiapanel. Sources: UKGTN