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  3. NDUFAF7
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Mitochondrial disorder with complex I deficiency

Gene: NDUFAF7

Red List (low evidence)
NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7)
EnsemblGeneIds (GRCh38): ENSG00000003509
EnsemblGeneIds (GRCh37): ENSG00000003509
OMIM: 615898, Gene2Phenotype
NDUFAF7 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.
Created: 12 Mar 2024, 5:01 p.m. | Last Modified: 12 Mar 2024, 5:01 p.m.
Panel Version: 3.8
Created: 12 Mar 2024, 5:01 p.m.
Last Modified: 12 Mar 2024, 5:01 p.m.
Panel version: 3.8

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 reports of human disease; complex I accessory subunit
Created: 10 May 2019, 9:50 a.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Publications

  • none found

Created: 10 May 2019, 9:50 a.m.

Panel version: 0.36

Ellen McDonagh (Genomics England Curator)

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

Panel version: 0.20

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. Gene Symbol submitted: NDUFAF7; Suggested intial gene rating: Green.
Created: 1 Feb 2019, 4:29 p.m.

Mode of inheritance
Unknown

Phenotypes
No OMIM phenotype

Created: 1 Feb 2019, 4:29 p.m.

Panel version: 0.3

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
615898
Clinvar variants
Variants in NDUFAF7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2024, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ndufaf7 has been classified as Red List (Low Evidence).

15 Jul 2019, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: NDUFAF7 were set to

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).

10 May 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: NDUFAF7 was added gene: NDUFAF7 was added to Mitochondrial disorder with complex I deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NDUFAF7 was set to Unknown Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype