Mitochondrial disorders
Gene: NDUFAF7The rating of this gene has been updated from Amber to Red following NHS Genomic Medicine Service approval.Created: 29 Jul 2022, 1:47 p.m. | Last Modified: 29 Jul 2022, 1:47 p.m.
Panel Version: 2.109
Single family with heterozygous variant and a phenotype that is not strongly suggestive of underlying mitochondrial disorder. In vitro functional assays conducted are not compelling evidence.Created: 22 Mar 2020, 11:13 p.m. | Last Modified: 22 Mar 2020, 11:13 p.m.
Panel Version: 2.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopia
Publications
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: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.
Panel Version: 1.412
Source Expert Review Red was added to NDUFAF7. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
gene: NDUFAF7 was added gene: NDUFAF7 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: NDUFAF7 was set to Unknown Publications for gene: NDUFAF7 were set to 28837730 Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype