1. Panels
  2. Ataxia and cerebellar anomalies - narrow panel
  3. ATCAY
Genes in panel
Prev Next

Ataxia and cerebellar anomalies - narrow panel

Gene: ATCAY

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

2 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, 4:39 p.m. | Last Modified: 6 Apr 2021, 4:39 p.m.
Panel Version: 2.63
Created: 6 Apr 2021, 4:39 p.m.
Last Modified: 6 Apr 2021, 4:39 p.m.
Panel version: 2.63

Zornitza Stark (Australian Genomics)

I don't know

Described in Cayman Island population, two founder variants only.
Created: 12 Sep 2020, 1:56 a.m. | Last Modified: 12 Sep 2020, 1:56 a.m.
Panel Version: 2.12

Phenotypes
Ataxia, cerebellar, Cayman type, MIM# 601238

Publications

Created: 12 Sep 2020, 1:56 a.m.
Last Modified: 12 Sep 2020, 1:56 a.m.
Panel version: 2.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, cerebellar, Cayman type OMIM:601238
  • Cayman type cerebellar ataxia MONDO:0011025
OMIM
608179
Clinvar variants
Variants in ATCAY
Penetrance
None
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 29449188; 14556008

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

6 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ATCAY were set to

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ATCAY was added gene: ATCAY was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type