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Hereditary neuropathy NOT PMP22 copy number

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

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by a review and rated green by a second reviewer. It is a green gene on the version 1 mitochondrial panel.
Created: 6 May 2016, 3:26 p.m.

History Filter Activity

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

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

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review,Expert Review Green Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL