MT-ATP8

mitochondrially encoded ATP synthase 8
OMIM: 516070, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green MT-ATP8 in Skeletal Muscle Channelopathies Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.46	review	MITOCHONDRIAL	Sources Expert Review Green Expert Review Tags gene-checked
Red MT-ATP8 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MITOCHONDRIAL	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH
Green MT-ATP8 in Skeletal muscle channelopathy Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MITOCHONDRIAL	Sources NHS GMS Expert Review Green London North GLH Phenotypes Can resemble skeletal muscle channelopathy Tags gene-checked
Green MT-ATP8 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CARDIOMYOPATHY, INFANTILE HYPERTROPHIC CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags gene-checked
Green MT-ATP8 in Likely inborn error of metabolism - targeted testing not possible Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MITOCHONDRIAL	Sources Expert Review Green Phenotypes CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY CARDIOMYOPATHY, INFANTILE HYPERTROPHIC BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags gene-checked
Green MT-ATP8 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 6.4 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy	review	MITOCHONDRIAL	Sources Expert Review Green UKGTN Phenotypes CARDIOMYOPATHY, INFANTILE HYPERTROPHIC CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO Tags gene-checked
No list MT-ATP8 in Childhood onset dystonia, chorea or related movement disorder Version 4.3 Latest signed off version: v4.0 (1 May 2024)	review	MITOCHONDRIAL	Sources Expert Review Removed London North GLH Tags curated_removed
Green MT-ATP8 in Severe Paediatric Disorders Version 1.184	review	MITOCHONDRIAL	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO CARDIOMYOPATHY, INFANTILE HYPERTROPHIC CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY