Mitochondrial disease
Gene: NDUFAF7EnsemblGeneIds (GRCh38): ENSG00000003509
EnsemblGeneIds (GRCh37): ENSG00000003509
OMIM: 615898, Gene2Phenotype
NDUFAF7 is in 2 panels
2 reviews
Krithika Murali (Victorian Clinical Genetics Services)
Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.Created: 18 Mar 2022, 6:16 a.m. | Last Modified: 18 Mar 2022, 6:16 a.m.
Panel Version: 0.11541
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pathologic myopia
Publications
Bryony Thompson (Royal Melbourne Hospital)
Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.
Sources: NHS GMSCreated: 22 Mar 2020, 6:56 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pathologic myopia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Pathologic myopia
- OMIM
- 615898
- Clinvar variants
- Variants in NDUFAF7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ndufaf7 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NDUFAF7 was added gene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NDUFAF7 were set to 28837730 Phenotypes for gene: NDUFAF7 were set to Pathologic myopia Review for gene: NDUFAF7 was set to RED