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Prepair 1000+

Gene: ATCAY

Green List (high evidence)
ATCAY (ATCAY, caytaxin)
EnsemblGeneIds (GRCh38): ENSG00000167654
EnsemblGeneIds (GRCh37): ENSG00000167654
OMIM: 608179, Gene2Phenotype
ATCAY is in 5 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Disorder characterized by hypotonia from birth, variable psychomotor impairment, and cerebellar dysfunction, including nystagmus, intention tremor, dysarthria, ataxic gait, and truncal ataxia.
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).
PMID: 37752557 - reports a homozygous frameshift variants (c.883_884del) in 21 month old Iranian patient with features of condition.
Created: 14 Oct 2024, 4:24 a.m. | Last Modified: 14 Oct 2024, 4:24 a.m.
Panel Version: 1.420

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ataxia, cerebellar, Cayman type MIM#601238

Publications

Created: 14 Oct 2024, 4:24 a.m.
Last Modified: 14 Oct 2024, 4:24 a.m.
Panel version: 1.420

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Ataxia, cerebellar, Cayman type, 601238 (3)
OMIM
608179
Clinvar variants
Variants in ATCAY
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: atcay has been classified as Green List (High Evidence).

20 Oct 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: ATCAY were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ATCAY was added gene: ATCAY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,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, 601238 (3)