Mitochondrial disorders
Gene: NDUFB10EnsemblGeneIds (GRCh38): ENSG00000140990
EnsemblGeneIds (GRCh37): ENSG00000140990
OMIM: 603843, Gene2Phenotype
NDUFB10 is in 5 panels
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
Arina Puzriakova (Genomics England Curator)
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Three individuals from two unrelated families now reported with convincing functional studies that support mitochondrial disease (PMID: 28040730; 33169436)Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 35, OMIM: 619003
Publications
Zornitza Stark (Australian Genomics)
Second family reported, including more functional data.Created: 9 Dec 2020, 5:56 a.m. | Last Modified: 9 Dec 2020, 5:56 a.m.
Panel Version: 2.12
Single compound heterozygote case with mitochondrial phenotype. Assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. Agree with other reviewers Amber more appropriate rating.Created: 22 Mar 2020, 11:17 p.m. | Last Modified: 22 Mar 2020, 11:17 p.m.
Panel Version: 2.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Publications
Sarah Leigh (Genomics England Curator)
Two variants in a compound heterozygous case with fatal infantile lactic acidosis and cardiomyopathy. Supportive functional studies were also performed.Created: 14 May 2019, 3:58 p.m.
Publications
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, 7:12 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 35, OMIM:619003
- OMIM
- 603843
- Clinvar variants
- Variants in NDUFB10
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_22_rating was removed from gene: NDUFB10.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to NDUFB10. Source Expert Review Green was added to NDUFB10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: NDUFB10 were set to 28040730
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFB10 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_22_rating tag was added to gene: NDUFB10.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: NDUFB10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: NDUFB10 were set to
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB10 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)NDUFB10 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen