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Severe Paediatric Disorders

Gene: MT-ND5

Green List (high evidence)

MT-ND5 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000198786
EnsemblGeneIds (GRCh37): ENSG00000198786
OMIM: 516005, Gene2Phenotype
MT-ND5 is in 5 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-ND5; Recommended initial gene rating: Green List (high evidence); Phenotypes: LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MELAS SYNDROME;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;MERRF 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

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • LEBER OPTIC ATROPHY
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • MERRF SYNDROME
  • MELAS SYNDROME
OMIM
516005
Clinvar variants
Variants in MT-ND5
Penetrance
None
Publications
Panels with this gene

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-ND5.

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