Mitochondrial disorders
Gene: NDUFB9Comment 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.
single mutation report in literatureCreated: 4 Feb 2016, 8:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Victorian Clinical Genetics Services was added to NDUFB9. Panel: Mitochondrial disorders
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for NDUFB9 was changed to BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Amber List (Moderate Evidence).
Publications for NDUFB9 were set to PMID: 22200994
NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
NDUFB9 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen