Hereditary ataxia
Gene: ATCAY

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

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Report of a variant c.599_605del, p.Pro200Profs*20 (PMID 29449188), which is in addition to the previously reported linked variants in the Cayman population (c.965+3G > T & p.S301R)(PMID 29449188). Mouse and zebra fish models share phenotypic features with humans with Ataxia, cerebellar, Cayman type (OMIM:601238)(PMID 14556008; 26343454).
Created: 6 Apr 2021, 4:38 p.m. | Last Modified: 6 Apr 2021, 4:38 p.m.

Panel Version: 1.215

Created: 6 Apr 2021, 4:38 p.m.
Last Modified: 6 Apr 2021, 4:38 p.m.
Panel version: 1.215

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Good evidence from expert reviewer and OMIM
Created: 2 Feb 2016, 9:57 a.m.

Created: 2 Feb 2016, 9:57 a.m.

Panel version: 0.2

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of evidence in lit
Created: 24 Nov 2015, 4:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, cerebellar, Cayman type ; Cerebellar Ataxia, Cayman type

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2015, 4:56 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Ataxia, cerebellar, Cayman type OMIM:601238
Cayman type cerebellar ataxia MONDO:0011025

OMIM

608179

Clinvar variants

Variants in ATCAY

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

6 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATCAY were set to 29449188; 14556008; 23226316

6 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATCAY were set to

6 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ATCAY were changed from Ataxia, cerebellar, Cayman type ; Cerebellar Ataxia, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025

2 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 3