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  2. Likely inborn error of metabolism
  3. MT-ATP6
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Likely inborn error of metabolism

Gene: MT-ATP6

Green List (high evidence)
MT-ATP6 (mitochondrially encoded ATP synthase 6)
EnsemblGeneIds (GRCh38): ENSG00000198899
EnsemblGeneIds (GRCh37): ENSG00000198899
OMIM: 516060, Gene2Phenotype
MT-ATP6 is in 21 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Two reviewers agree this should be promoted from amber.
Created: 8 Feb 2016, 2:08 p.m.
Created: 8 Feb 2016, 2:08 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.53

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

History Filter Activity

18 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ATP6.

12 Sep 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ATP6.

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-ATP6.

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

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL