1. Panels
  2. Childhood onset dystonia, chorea or related movement disorder
  3. ATP13A2
Genes in panel
Prev Next
Regions in panel
Prev Next

Childhood onset dystonia, chorea or related movement disorder

Gene: ATP13A2

Green List (high evidence)
ATP13A2 (ATPase 13A2)
EnsemblGeneIds (GRCh38): ENSG00000159363
EnsemblGeneIds (GRCh37): ENSG00000159363
OMIM: 610513, Gene2Phenotype
ATP13A2 is in 20 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to ATP13A2. Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Kufor-Rakeb syndrome 606693; Parkinson disease; Dystonia for gene: ATP13A2 Publications for gene ATP13A2 were changed from to 21060012

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: ATP13A2 was added gene: ATP13A2 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: ATP13A2 was set to