Ataxia and cerebellar anomalies - narrow panel
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, 4:39 p.m. | Last Modified: 6 Apr 2021, 4:39 p.m.
Panel Version: 2.63
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
Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Publications for gene: ATCAY were set to 29449188; 14556008
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
Publications for gene: ATCAY were set to
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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