Mitochondrial disorders
Gene: NDUFB8EnsemblGeneIds (GRCh38): ENSG00000166136
EnsemblGeneIds (GRCh37): ENSG00000166136
OMIM: 602140, Gene2Phenotype
NDUFB8 is in 6 panels
2 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: 2 unrelated cases with 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, 2:58 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, 8:27 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 32, 618252
- OMIM
- 602140
- Clinvar variants
- Variants in NDUFB8
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: NDUFB8 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 32, 618252
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NDUFB8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NDUFB8 were set to
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ndufb8 has been classified as Green List (High Evidence).
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to NDUFB8. Source Expert Review Green was added to NDUFB8. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB8 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)NDUFB8 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen