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  3. NDUFB9
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Likely inborn error of metabolism

Gene: NDUFB9

Amber List (moderate evidence)
NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)
EnsemblGeneIds (GRCh38): ENSG00000147684
EnsemblGeneIds (GRCh37): ENSG00000147684
OMIM: 601445, Gene2Phenotype
NDUFB9 is in 6 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported, together with supportive functional studies.
Created: 19 Aug 2019, 12:39 p.m. | Last Modified: 19 Aug 2019, 12:39 p.m.
Panel Version: 1.195
Created: 19 Aug 2019, 12:34 p.m.
Last Modified: 19 Aug 2019, 12:34 p.m.
Panel version: 1.193

Louise Daugherty (NIHR BioResource - Rare Diseases Study (NIHRBR-RD), University of Cambridge & NHS Blood and Transplant)

gene: NDUFB9 review by Louise Daugherty

currently phenotype and gene is provisional in OMIM (last update 2013), to date there is only one reported case : PMID:22200994 1 family (2 affected) homozygous c.191T>C, p.(L64P) (highly conserved residue). Phenotype rescued by wild type NDUFB9 in patient derived fibroblasts. On Radboud EPILEPSY MITOCHONDRIAL DISORDERS panel
Created: 23 Feb 2017, 5:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex I deficiency

Publications

Created: 23 Feb 2017, 5:15 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Created: 29 Mar 2019, 11:06 a.m.
Comment on list classification: Pathogenic variant reported in siblings in one publication.
Created: 22 Apr 2016, 7:30 a.m.
Comment on list classification: Promoted from red to amber.
Created: 22 Apr 2016, 7:17 a.m.
Created: 22 Apr 2016, 7:17 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.555

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 4 Feb 2016, 8:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 4 Feb 2016, 8:37 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Mitochondrial complex I deficiency, nuclear type 24 618245
OMIM
601445
Clinvar variants
Variants in NDUFB9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ndufb9 has been classified as Amber List (Moderate Evidence).

19 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: NDUFB9 were changed from ?Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex I deficiency; Isolated complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 24 618245

19 Aug 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFB9 were set to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to NDUFB9. Source London North GLH was added to NDUFB9.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes ?Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB9 Publications for gene NDUFB9 were changed from 27604308 to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: NDUFB9 was added gene: NDUFB9 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB9 were set to 27604308 Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)