Mitochondrial disorder with complex I deficiency

Gene: NDUFB9

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) with functional studies

Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 24, 618245

Publications

• 22200994

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: NDUFB9; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.

Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Mitochondrial complex I deficiency, nuclear type 24, 618245

Comment on list classification: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.

Created: 10 May 2019, 10:22 a.m.

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 11:06 a.m.

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, 11:05 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.

Green List (high evidence)

single mutation report in literature

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal