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  3. NDUFB10
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Mitochondrial disease

Gene: NDUFB10

Green List (high evidence)
NDUFB10 (NADH:ubiquinone oxidoreductase subunit B10)
EnsemblGeneIds (GRCh38): ENSG00000140990
EnsemblGeneIds (GRCh37): ENSG00000140990
OMIM: 603843, Gene2Phenotype
NDUFB10 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Second family reported, functional data, upgrade to Green.
Created: 11 Nov 2020, 1:19 a.m. | Last Modified: 11 Nov 2020, 1:19 a.m.
Panel Version: 0.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003

Publications

Created: 5 Sep 2020, 1:46 a.m.
Last Modified: 5 Sep 2020, 1:46 a.m.
Panel version: 0.553

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Single compound heterozygote case and 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. No omim phenotype.
Sources: NHS GMS
Created: 22 Mar 2020, 6:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
fatal infantile lactic acidosis; cardiomyopathy

Publications

Created: 22 Mar 2020, 6:44 a.m.

Panel version: 0.303

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • fatal infantile lactic acidosis
  • cardiomyopathy
  • Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
OMIM
603843
Clinvar variants
Variants in NDUFB10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDUFB10 were set to 28040730; 32025618

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ndufb10 has been classified as Green List (High Evidence).

5 Sep 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndufb10 has been classified as Amber List (Moderate Evidence).

22 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndufb10 has been classified as Amber List (Moderate Evidence).

22 Mar 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NDUFB10 was added gene: NDUFB10 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB10 were set to 28040730; 32025618 Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy Review for gene: NDUFB10 was set to AMBER