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Skeletal muscle channelopathy v3.1 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v3.1 | MT-ATP8 | Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v1.39 | MT-ATP8 | Eleanor Williams Tag gene-checked tag was added to gene: MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.17 | MT-ATP8 | Louise Daugherty Publications for gene MT-ATP8 were changed from to 24153443 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.16 | MT-ATP8 | Louise Daugherty Source NHS GMS was added to MT-ATP8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.15 | MT-ATP8 | James Polke reviewed gene: MT-ATP8: Rating: GREEN; Mode of pathogenicity: ; Publications: Aure et al 2013 Neurology 81, 1810-8 PMID:24153443; Phenotypes: Can resemble skeletal muscle channelopathy; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.14 | MT-ATP8 | Louise Daugherty Added phenotypes Can resemble skeletal muscle channelopathy for gene: MT-ATP8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Skeletal muscle channelopathy v0.13 | MT-ATP8 |
Louise Daugherty Source Expert Review Green was added to MT-ATP8. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Skeletal muscle channelopathy v0.12 | MT-ATP8 |
Louise Daugherty gene: MT-ATP8 was added gene: MT-ATP8 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL |