Genes in panel
STRs in panel
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Inborn errors of metabolism

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

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)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 1:01 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
Phenotypes
  • MELAS SYNDROME
  • LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
  • LEBER OPTIC ATROPHY
  • MERRF SYNDROME
OMIM
516005
Clinvar variants
Variants in MT-ND5
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; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY for gene: MT-ND5

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MT-ND5 was added gene: MT-ND5 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND5 were set to MELAS SYNDROME; MERRF SYNDROME; LEBER OPTIC ATROPHY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY