Mitochondrial disorder with complex II deficiency
Gene: SDHAF1Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter. At least 3 families reported.Created: 10 May 2019, 10:36 a.m.
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Multiple unrelated cases with functional studiesCreated: 10 May 2019, 10:31 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
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: SDHAF1; Suggested intial gene rating: Green; Information provided: Mode of inheritance and phenotype.Created: 1 Feb 2019, 4:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Gene: sdhaf1 has been classified as Green List (High Evidence).
Gene: sdhaf1 has been classified as Green List (High Evidence).
Publications for gene: SDHAF1 were set to
Gene: sdhaf1 has been classified as Amber List (Moderate Evidence).
gene: SDHAF1 was added gene: SDHAF1 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHAF1 were set to Mitochondrial respiratory chain complex II deficiency, 252011