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Ataxia - adult onset

Gene: ATP13A2

Green List (high evidence)
ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families with ataxia as a feature of the condition. Mainly adult-onset ataxia. Also, a Tibetan terrier with a homozygous frameshift variant had cerebellar ataxia.
Sources: Literature
Created: 21 Feb 2022, 12:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Kufor-Rakeb syndrome MIM#606693

Publications

Created: 21 Feb 2022, 12:40 a.m.

Panel version: 0.151

History Filter Activity

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp13a2 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: atp13a2 has been classified as Green List (High Evidence).

21 Feb 2022, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ATP13A2 was added gene: ATP13A2 was added to Ataxia - adult onset. Sources: Literature Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP13A2 were set to 21362476; 21696388; 31588715; 32559632; 33033738; 33091395; 34405108 Phenotypes for gene: ATP13A2 were set to Kufor-Rakeb syndrome MIM#606693 Review for gene: ATP13A2 was set to GREEN