Structural basal ganglia disorders
Gene: MT-ND6EnsemblGeneIds (GRCh38): ENSG00000198695
EnsemblGeneIds (GRCh37): ENSG00000198695
OMIM: 516006, Gene2Phenotype
MT-ND6 is in 14 panels
5 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
MITOCHONDRIAL
Variants in this GENE are reported as part of current diagnostic practice
Sarah Leigh (Genomics England Curator)
Comment on list classification: Green on Version 1 Mitochondrial disorders panelCreated: 2 Mar 2017, 1:49 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
MITOCHONDRIAL
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
- Tags
- OMIM
- 516006
- Clinvar variants
- Variants in MT-ND6
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Mitochondrial disorders
- Infantile nystagmus
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Albinism or congenital nystagmus
- Adult onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Adult onset neurodegenerative disorder
- Structural basal ganglia disorders
- Retinal disorders
- NARP syndrome or maternally inherited Leigh syndrome
- Hereditary neuropathy or pain disorder
- Early onset dystonia
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.
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Manju Kurian (UCL-Institute of Child Health)MT-ND6 was added to Structural basal ganglia disorderspanel. Sources: Literature
Created
Manju Kurian (UCL-Institute of Child Health)MT-ND6 was created by Manju