Structural basal ganglia disorders
Gene: NDUFAF6
NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6)
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000156170
EnsemblGeneIds (GRCh37): ENSG00000156170
OMIM: 612392, Gene2Phenotype
NDUFAF6 is in 9 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 7 variants reportedCreated: 6 Mar 2017, 4 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Leigh syndrome due to mitochondrial complex I deficiency 256000
- OMIM
- 612392
- Clinvar variants
- Variants in NDUFAF6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Paediatric or syndromic cardiomyopathy
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex I deficiency
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency 256000
6 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for NDUFAF6 were set to 18614015;27623250;26741492
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)NDUFAF6 was created by Manju
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)NDUFAF6 was added to Structural basal ganglia disorderspanel. Sources: Literature