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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: MT-ATP6; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEIGH SYNDROME; LEBER OPTIC ATROPHY; BILATERAL STRIATAL NECROSIS; SEIZURES AND LACTIC ACIDOSIS; NARP SYNDROME; Mode of inheritance: NA
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:22 p.m.
Last Modified: 20 Feb 2020, 5:22 p.m.
Panel version: 0.12

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.

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene MT-ATP6 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes LEBER OPTIC ATROPHY; LEIGH SYNDROME; NARP SYNDROME; SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS for gene: MT-ATP6

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes SEIZURES AND LACTIC ACIDOSIS; BILATERAL STRIATAL NECROSIS; LEIGH SYNDROME; LEBER OPTIC ATROPHY; NARP SYNDROME for gene: MT-ATP6

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to MT-ATP6.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to MT-ATP6. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MT-ATP6 was added gene: MT-ATP6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL