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Inborn errors of metabolism

Gene: MT-ATP8

Green List (high evidence)

MT-ATP8 (mitochondrially encoded ATP synthase 8)
EnsemblGeneIds (GRCh38): ENSG00000228253
EnsemblGeneIds (GRCh37): ENSG00000228253
OMIM: 516070, Gene2Phenotype
MT-ATP8 is in 7 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comments from Dr Atsuko Okazaki (Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo, Japan): "Only m.8528T>C (to be exact, it is an overlapping region of MT-ATP6/ATP8) can be reported as a confirmed mutation for infantile hypertrophic cardiomyopathy. In comparison, m.8527A>G is a polymorphism for MT-ATP8 and possibly disease-associated for MT-ATP6 (amber/red) although both m.8527A>G and m.8528T>C are located in MT-ATP8 gene."
Created: 4 Dec 2018, 11:25 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:40 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
  • CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
  • BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO
OMIM
516070
Clinvar variants
Variants in MT-ATP8
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC for gene: MT-ATP8

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-ATP8 was added gene: MT-ATP8 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL Phenotypes for gene: MT-ATP8 were set to BRAIN PSEUDOATROPHY, REVERSIBLE, VALPROATE-INDUCED, SUSCEPTIBILITY TO; CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY; CARDIOMYOPATHY, INFANTILE HYPERTROPHIC