Possible mitochondrial disorder - nuclear genes

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, 1:02 p.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.

Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 1:59 p.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