Possible mitochondrial disorder - nuclear genes
Gene: NDUFB4
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 cases reported with same variant & very limited infoCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
No OMIM phenotype
Publications
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red 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, 1:56 p.m.
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
Unknown
Phenotypes
No OMIM phenotype
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 8:24 p.m.
Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
gene: NDUFB4 was added gene: NDUFB4 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB4 was set to Unknown Phenotypes for gene: NDUFB4 were set to No OMIM phenotype