MT-ATP6

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red MT-ATP6 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews MITOCHONDRIAL
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Leigh syndrome, MONDO:0009723

Green MT-ATP6 in Mendeliome


Version 2.0

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 2.0

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 2.0

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 2.0

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 2.0

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 1.0

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