Hereditary ataxia with onset in adulthood
Gene: ANO10
On Sheffield and Oxford panels. >3 families on OMIM.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.
Multiple patients in literature and several positives within out own cohortCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia autosomal recessive type 10, 613728
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to ANO10.
Added phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 for gene: ANO10
Source NHS GMS was added to ANO10.
Source Wessex and West Midlands GLH was added to ANO10.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ANO10 was added gene: ANO10 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10