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Cardiomyopathies - including childhood onset

Gene: NDUFAF8

Red List (low evidence)

NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)
EnsemblGeneIds (GRCh38): ENSG00000224877
EnsemblGeneIds (GRCh37): ENSG00000224877
NDUFAF8 is in 6 panels

3 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: Newcastle team are aware of 3 unrelated cases and functional studies
Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 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, 10:11 a.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.131) and is not in OMIM associated with a disease - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 11:02 a.m.

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red 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: NDUFAF8; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • MetBioNet
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Clinvar variants
Variants in NDUFAF8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Red was added to NDUFAF8. Rating Changed from Green List (high evidence) to Red List (low 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: NDUFAF8 was added gene: NDUFAF8 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF8 were set to 27499296 Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype