Possible mitochondrial disorder - nuclear genes
Gene: NDUFAF7EnsemblGeneIds (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: 3.96
Carl Fratter (Oxford University Hospitals NHS Trust)
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 subunitCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
- none found
Ellen McDonagh (Genomics England Curator)
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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:55 p.m.
Ivone Leong (Genomics England Curator)
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
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
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: ndufaf7 has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: NDUFAF7 were set to
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: NDUFAF7 was added gene: NDUFAF7 was added to Possible mitochondrial disorder - nuclear genes. 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