MT-ATP6:Ensemblv90

mitochondrially encoded ATP synthase 6
OMIM: 516060, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Red MT-ATP6 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 2.0 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	MITOCHONDRIAL	Sources Expert Review Red Expert list Phenotypes Leigh syndrome, MONDO:0009723
Green MT-ATP6 in Mendeliome Version 1.3802	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Mitochondrial disease Level 2: Metabolic disorders Version 0.1299 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.304	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.162 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 0.225 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 review	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Red MT-ATP6 in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	MITOCHONDRIAL	Sources Expert list Expert Review Red Phenotypes Leigh syndrome, MONDO:0009723
Green MT-ATP6 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 2.0	1 review	MITOCHONDRIAL	Sources Expert list Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MITOCHONDRIAL	Sources Expert list Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green MT-ATP6 in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	MITOCHONDRIAL	Sources Expert list Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA