Genes in panel
STRs in panel
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Inborn errors of metabolism

Gene: MT-ND4L

Green List (high evidence)

MT-ND4L (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L)
EnsemblGeneIds (GRCh38): ENSG00000212907
EnsemblGeneIds (GRCh37): ENSG00000212907
OMIM: 516004, Gene2Phenotype
MT-ND4L 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 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

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 LEBER OPTIC ATROPHY for gene: MT-ND4L

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MT-ND4L was added gene: MT-ND4L was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4L were set to LEBER OPTIC ATROPHY