Mitochondrial disorders
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 14 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, 1:03 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- MITOCHONDRIAL
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- LEBER OPTIC ATROPHY
- LEBER OPTIC ATROPHY AND DYSTONIA
- LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
- MELAS SYNDROME
- STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- Panels with this gene
-
- Optic neuropathy
- Hereditary neuropathy or pain disorder
- Structural basal ganglia disorders
- Retinal disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Early onset dystonia
- Likely inborn error of metabolism
- Adult onset neurodegenerative disorder
- Undiagnosed metabolic disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
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-ND6.
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-ND6.
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: MT-ND6.
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-ND6 were set to LEBER OPTIC ATROPHY; LEBER OPTIC ATROPHY AND DYSTONIA; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY; MELAS SYNDROME; STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
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-ND6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN