Hereditary ataxia - adult onsetGene: ATM
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.
Well described. Currently also listed in test directory for single gene sequencing in Sheffield. Evidence of cancer risk for heterozygous carriers
Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ataxia-telangiectasia, 607585 for gene: ATM
Source NHS GMS was added to ATM.
Source Wessex and West Midlands GLH was added to ATM.
Checked panel against panel constituents. Ready to promote to version 1.
gene: ATM was added gene: ATM was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATM were set to Ataxia-Telangiectasia