Mitochondrial disorders
Gene: MT-ND3EnsemblGeneIds (GRCh38): ENSG00000198840
EnsemblGeneIds (GRCh37): ENSG00000198840
OMIM: 516002, Gene2Phenotype
MT-ND3 is in 5 panels
3 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
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, 12:57 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- MITOCHONDRIAL COMPLEX I DEFICIENCY
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
- Tags
- OMIM
- 516002
- Clinvar variants
- Variants in MT-ND3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
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-ND3.
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND3.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND3.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MT-ND3 were set to MITOCHONDRIAL COMPLEX I DEFICIENCY; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)MT-ND3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN