Hereditary ataxia with onset in adulthood
Gene: MT-ATP6
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.
Main variant is mt.8993T>G although other variants in gene reported (e.g 8993T>C, 9185T>C, 8618insT)Created: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MITOCHONDRIAL
Phenotypes
Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500
Variants in this GENE are reported as part of current diagnostic practice
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.
Tag gene-checked tag was added to gene: MT-ATP6.
Added phenotypes Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500 for gene: MT-ATP6
Source NHS GMS was added to MT-ATP6.
Source Wessex and West Midlands GLH was added to MT-ATP6.
Checked panel against panel constituents. Ready to promote to version 1.
gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa