Mitochondrial disorder with complex II deficiency
Gene: SDHAF3Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.Created: 12 Mar 2024, 5 p.m. | Last Modified: 12 Mar 2024, 5 p.m.
Panel Version: 2.10
Comment when marking as ready: 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, 10:37 a.m.
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human mitochondrial disease; complex II assembly factorCreated: 10 May 2019, 10:31 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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. Gene Symbol submitted: SDHAF3; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:31 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Gene: sdhaf3 has been classified as Red List (Low Evidence).
Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
gene: SDHAF3 was added gene: SDHAF3 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHAF3 was set to Unknown Phenotypes for gene: SDHAF3 were set to No OMIM phenotype