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Possible mitochondrial disorder - nuclear genes

Gene: NDUFA8

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

6 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, 1:12 p.m. | Last Modified: 1 Feb 2023, 1:12 p.m.
Panel Version: 2.5
Created: 1 Feb 2023, 1:12 p.m.
Last Modified: 1 Feb 2023, 1:12 p.m.
Panel version: 2.5

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) in August 2022 on behalf of the three GMS Mitochondrial providers, indicating that this gene requires a rating upgrade from Amber to Green.
Created: 30 Aug 2022, 9:10 a.m. | Last Modified: 30 Aug 2022, 9:10 a.m.
Panel Version: 1.99
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: 1.98

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Aug 2022, 9:08 a.m.
Last Modified: 30 Aug 2022, 9:08 a.m.
Panel version: 1.99

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: No definitive reports of human disease; complex I subunit
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

Created: 10 May 2019, 1:02 p.m.

Panel version: 0.134

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

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, 1:53 p.m.
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, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: NDUFA8. Tag Q3_22_NHS_review was removed from gene: NDUFA8.

1 Feb 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NDUFA8 were changed from Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272 to Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272

30 Aug 2022, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NDUFA8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 37, OMIM: 619272

30 Aug 2022, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: NDUFA8 were set to

30 Aug 2022, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NDUFA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

25 Aug 2022, Gel status: 2

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: NDUFA8. Tag Q3_22_NHS_review tag was added to gene: NDUFA8.

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufa8 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFA8 was added gene: NDUFA8 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFA8 was set to Unknown Phenotypes for gene: NDUFA8 were set to No OMIM phenotype