Genes in panel

Adult onset movement disorder

Gene: APTX

Green List (high evidence)

APTX (aprataxin)
EnsemblGeneIds (GRCh38): ENSG00000137074
EnsemblGeneIds (GRCh37): ENSG00000137074
OMIM: 606350, Gene2Phenotype
APTX is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.

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

Green List (high evidence)

History Filter Activity

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to APTX.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to APTX.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: APTX was added gene: APTX was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Dystonia