Genes in panel

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 7 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Ataxia, cerebellar, Cayman type
  • Cerebellar Ataxia, Cayman type
OMIM
608179
Clinvar variants
Variants in ATCAY
Penetrance
None
Panels with this gene

History Filter Activity

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