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  2. Dystonia, chorea or related movement disorder, childhood onset
  3. APTX
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Dystonia, chorea or related movement disorder, childhood onset

Gene: APTX

Green List (high evidence)
APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 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

8 Dec 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: APTX were changed from Dystonia to Dystonia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920

6 Dec 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to APTX. Mode of inheritance for gene APTX was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Dystonia for gene: APTX

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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