Hereditary ataxia
Gene: ATCAY
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
Comment when marking as ready: Good evidence from expert reviewer and OMIMCreated: 2 Feb 2016, 9:57 a.m.
Fine. Lots of evidence in litCreated: 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
Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Publications for gene: ATCAY were set to
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
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ATCAY was changed to BIALLELIC, autosomal or pseudoautosomal
ATCAY was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Model of inheritance for gene ATCAY was changed to BIALLELIC, autosomal or pseudoautosomal
ATCAY was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
ATCAY was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN