Mitochondrial disorders
Gene: MT-ATP8Comments from Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan): "Among variants in an overlapping region of MT-ATP6/8, m.8528T>C is reported as a confirmed mutation for infantile hypertrophic cardiomyopathy (Ware SM et al, Journal of Medical Genetics, 2009, Imai et al, Journal of International Cardiology, 2016".Created: 5 Oct 2020, 1:28 p.m. | Last Modified: 5 Oct 2020, 1:28 p.m.
Panel Version: 2.8
Mode of inheritance
MITOCHONDRIAL
Variants in this GENE are reported as part of current diagnostic practice
Comments from Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan): "Only m.8528T>C (to be exact, it is an overlapping region of MT-ATP6/ATP8) can be reported as a confirmed mutation for infantile hypertrophic cardiomyopathy. In comparison, m.8527A>G is a polymorphism for MT-ATP8 and possibly disease-associated for MT-ATP6 (amber/red) although both m.8527A>G and m.8528T>C are located in MT-ATP8 gene."Created: 4 Dec 2018, 11:25 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:40 p.m.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Tag gene-checked tag was added to gene: MT-ATP8.
This gene has been classified as Green List (High Evidence).
Phenotypes for MT-ATP8 were set to CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
This gene has been classified as Green List (High Evidence).
MT-ATP8 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN