Mitochondrial disorders
Gene: NDUFB9EnsemblGeneIds (GRCh38): ENSG00000147684
EnsemblGeneIds (GRCh37): ENSG00000147684
OMIM: 601445, Gene2Phenotype
NDUFB9 is in 6 panels
2 reviews
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.
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 4 Feb 2016, 8:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex I deficiency
- ?Mitochondrial complex I deficiency, 252010
- OMIM
- 601445
- Clinvar variants
- Variants in NDUFB9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (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.
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to NDUFB9. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for NDUFB9 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for 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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for NDUFB9 were set to PMID: 22200994
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen