Likely inborn error of metabolism
Gene: NDUFA8

NDUFA8 (NADH:ubiquinone oxidoreductase subunit A8)
EnsemblGeneIds (GRCh38): ENSG00000119421
EnsemblGeneIds (GRCh37): ENSG00000119421
OMIM: 603359, Gene2Phenotype
NDUFA8 is in 5 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 10:24 a.m. | Last Modified: 1 Feb 2023, 10:24 a.m.

Panel Version: 3.6

Created: 1 Feb 2023, 10:24 a.m.
Last Modified: 1 Feb 2023, 10:24 a.m.
Panel version: 3.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, indicating that the rating should be upgraded from Amber to Green on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the change, the rating should also be updated to Green on this panel at the next GMS review. Three individuals from two unrelated families now reported in literature with supportive functional studies (PMID: 32385911; 33153867).
Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.

Panel Version: 2.265

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272

Publications

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 2.265

Sarah Leigh (Genomics England Curator)

Publications

15576045

Created: 14 May 2019, 3:17 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.292

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Candidate gene, but no currently known pathogenic mutations, therefore this gene should be demoted to red.
Created: 8 Feb 2016, 2:33 p.m.

Created: 8 Feb 2016, 2:33 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.64

Shamima Rahman (UCL Institute of Child Health)

I don't know

no pathogenic mutations reported to date but good candidate gene for mitochondrial complex I deficiency
Created: 3 Feb 2016, 5:30 p.m.

Created: 3 Feb 2016, 5:30 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272

OMIM

603359

Clinvar variants

Variants in NDUFA8

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NDUFA8.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to NDUFA8. Source Expert Review Green was added to NDUFA8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2022, Gel status: 2