Childhood onset dystonia, chorea or related movement disorder
Gene: ATCAY

ATCAY (ATCAY, caytaxin)
EnsemblGeneIds (GRCh38): ENSG00000167654
EnsemblGeneIds (GRCh37): ENSG00000167654
OMIM: 608179, Gene2Phenotype
ATCAY is in 6 panels

1 review

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

I don't know

?ataxia included
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.

Panel Version: 0.9

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

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
Expert Review Amber

Phenotypes

Ataxia, cerebellar, Cayman type, 601238

OMIM

608179

Clinvar variants

Variants in ATCAY

Penetrance

None

Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ATCAY was changed from to BIALLELIC, autosomal or pseudoautosomal

7 Dec 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ATCAY were changed from to Ataxia, cerebellar, Cayman type, 601238

6 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

Childhood onset dystonia, chorea or related movement disorder Gene: ATCAY