Possible mitochondrial disorder - nuclear genes
Gene: NDUFB9
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 studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Mitochondrial complex I deficiency, nuclear type 24, 618245
Publications
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.
single mutation report in literatureCreated: 4 Feb 2016, 8:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
gene: NDUFB9 was added gene: NDUFB9 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB9 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB9 were set to ?Mitochondrial complex I deficiency, nuclear type 24, 618245