Genes in panel
STRs in panel
Prev Next

Cardiomyopathies - including childhood onset

Gene: NDUFB8

Amber List (moderate evidence)

NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8)
EnsemblGeneIds (GRCh38): ENSG00000166136
EnsemblGeneIds (GRCh37): ENSG00000166136
OMIM: 602140, Gene2Phenotype
NDUFB8 is in 7 panels

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases 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 32, 618252

Publications

Ellen McDonagh (Genomics England Curator)

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.

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel. Therefore demoted from previous Green status to Amber.
Created: 3 Dec 2019, 1:59 p.m. | Last Modified: 3 Dec 2019, 1:59 p.m.
Panel Version: 0.53
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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

Shamima Rahman (UCL Institute of Child Health)

I don't know

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • MetBioNet
  • NHS GMS
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 32, 618252
OMIM
602140
Clinvar variants
Variants in NDUFB8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Dec 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to NDUFB8. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

9 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: NDUFB8 was added gene: NDUFB8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB8 were set to 29429571; 27290639 Phenotypes for gene: NDUFB8 were set to Mitochondrial complex I deficiency, nuclear type 32, 618252