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Severe Paediatric Disorders

Gene: MT-ND6

Green List (high evidence)

MT-ND6 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6)
EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 16 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-ND6; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEBER OPTIC ATROPHY;LEBER OPTIC ATROPHY AND DYSTONIA;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA; 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

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • MELAS SYNDROME
  • STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
OMIM
516006
Clinvar variants
Variants in MT-ND6
Penetrance
None
Publications
Panels with this gene