Hereditary ataxia

Gene: PAX2

Red List (low evidence)

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 19 panels

2 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Not associated with the phenotype
Created: 11 Jul 2016, 4:43 a.m.

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

Looks like this was described as IOSCA (now known to be C10orf2). Probably not appropriate for inclusion. Not on our panel. Delete.
Created: 24 Nov 2015, 4:57 p.m.

Phenotypes
Ataxia,spastic2,autosomalrecessive(2)

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).

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PAX2 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen