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  3. MT-ATP6
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Brain Calcification

Gene: MT-ATP6

Red List (low evidence)
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leigh syndrome, MONDO:0009723

Created: 4 May 2023, 6:46 a.m.
Last Modified: 4 May 2023, 6:46 a.m.
Panel version: 1.81

Yetong Chen (University of Melbourne)

Red List (low evidence)

Limited evidence supports the causal role of the MT-ATP6 gene in brain calcification.
PMID 32042910 reports a patient (patient P2) with the m.8782G>A: p.(Gly86*) variant in MT-ATP6 who developed basal ganglia calcification.
PMID PMID: 29929013 reports a patient with the m.8936T > A variant in MT-ATP6 who developed brain calcification.
Sources: Expert list
Created: 20 Apr 2023, 4:47 a.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Leigh syndrome, MIM* 516060

Publications

Created: 20 Apr 2023, 4:47 a.m.

Panel version: 1.51

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Leigh syndrome, MONDO:0009723
OMIM
516060
Clinvar variants
Variants in MT-ATP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-atp6 has been classified as Red List (Low Evidence).

4 May 2023, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MT-ATP6 were changed from Leigh syndrome, MIM# 256000 to Leigh syndrome, MONDO:0009723

4 May 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mt-atp6 has been classified as Red List (Low Evidence).

20 Apr 2023, Gel status: 0

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

Yetong Chen (University of Melbourne)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL Publications for gene: MT-ATP6 were set to 32042910; 29929013 Phenotypes for gene: MT-ATP6 were set to Leigh syndrome, MIM# 256000 Review for gene: MT-ATP6 was set to RED