Mitochondrial disorders
Gene: NDUFA6EnsemblGeneIds (GRCh38): ENSG00000184983
EnsemblGeneIds (GRCh37): ENSG00000184983
OMIM: 602138, Gene2Phenotype
NDUFA6 is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: PMID: 30245030 reports four unrelated children who presented with neuroradiological findings and/or elevated lactate levels, with biallelic variants in this gene, plus functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).Created: 23 May 2019, 2:36 p.m.
Ivone Leong (Genomics England Curator)
Comment on list classification: Promoted from red to green. This gene is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. PMID: 30245030 reported on 4 unrelated children of different ethnicity who have different variants in this gene with the associated phenotype. Therefore, there is enough evidence to promote this gene to green.Created: 2 May 2019, 2:41 p.m.
Shamima Rahman (UCL Institute of Child Health)
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)
Created: 4 Feb 2016, 7:03 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
- OMIM
- 602138
- Clinvar variants
- Variants in NDUFA6
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFA6 were changed from Mitochondrial complex I deficiency, nuclear type 33, 618253 to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ndufa6 has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253 to Mitochondrial complex I deficiency, nuclear type 33, 618253
Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to NDUFA6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: ndufa6 has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NDUFA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: NDUFA6 were set to
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NDUFA6 were changed from Isolated complex I deficiency; No OMIM phenotype to Isolated complex I deficiency; Mitochondrial complex I deficiency, nuclear type 33, 618253
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFA6 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen