Mitochondrial disorder with complex I deficiency
Gene: NDUFB8
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 9:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 32, 618252
Publications
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:21 a.m.
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 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 11:04 a.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. Gene Symbol submitted: NDUFB8; 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 32, 618252
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 8:27 p.m.
Gene: ndufb8 has been classified as Green List (High Evidence).
Gene: ndufb8 has been classified as Green List (High Evidence).
Publications for gene: NDUFB8 were set to
Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
gene: NDUFB8 was added gene: NDUFB8 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252