Hereditary ataxia with onset in adulthood
Gene: ATCAY
On Sheffield and Oxford panels. Only 1 family on OMIM but 3 disease causing mutations in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Seems to be limited to single founder mutation, VERY good segregation evidence in large families and functional evidence for protein involvement (mouse knockout)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cayman Ataxia, 601238
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: ATCAY were set to 29449188; 14556008; 23226316
Phenotypes for gene: ATCAY were changed from Cerebellar Ataxia, Cayman type; Cayman Ataxia, 601238; Ataxia, cerebellar, Cayman type to Ataxia, cerebellar, Cayman type OMIM:601238; Cayman type cerebellar ataxia MONDO:0011025
Publications for gene: ATCAY were set to
Source London North GMS was added to ATCAY.
Added phenotypes Cayman Ataxia, 601238 for gene: ATCAY
Source NHS GMS was added to ATCAY.
Source Wessex and West Midlands GLH was added to ATCAY.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ATCAY was added gene: ATCAY was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATCAY were set to Cerebellar Ataxia, Cayman type; Ataxia, cerebellar, Cayman type