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Severe Paediatric Disorders v1.174 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP8.
Severe Paediatric Disorders v1.173 MT-ATP8 Achchuthan Shanmugasundram Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP8.
Severe Paediatric Disorders v0.12 MT-ATP8 Louise Daugherty reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 MT-ATP8 Louise Daugherty Publications for gene MT-ATP8 were updated from to 30847515
Severe Paediatric Disorders v0.10 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.9 MT-ATP8 Louise Daugherty Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY for gene: MT-ATP8
Severe Paediatric Disorders v0.8 MT-ATP8 Louise Daugherty Added phenotypes CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC; BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO for gene: MT-ATP8
Severe Paediatric Disorders v0.7 MT-ATP8 Louise Daugherty Source Next Generation Children Project was added to MT-ATP8.
Severe Paediatric Disorders v0.5 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)
Severe Paediatric Disorders v0.4 MT-ATP8 Louise Daugherty gene: MT-ATP8 was added
gene: MT-ATP8 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL