Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: MT-ND4

Green List (high evidence)

MT-ND4 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4)
EnsemblGeneIds (GRCh38): ENSG00000198886
EnsemblGeneIds (GRCh37): ENSG00000198886
OMIM: 516003, Gene2Phenotype
MT-ND4 is in 9 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

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

Ellen McDonagh (Genomics England Curator)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:48 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:58 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • MELAS SYNDROME
  • LEBER OPTIC ATROPHY AND DYSTONIA
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX I DEFICIENCY
OMIM
516003
Clinvar variants
Variants in MT-ND4
Penetrance
None
Panels with this gene

History Filter Activity

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

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND4

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MT-ND4 was added gene: MT-ND4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to MELAS SYNDROME; LEBER OPTIC ATROPHY AND DYSTONIA; LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX I DEFICIENCY