Likely inborn error of metabolism - targeted testing not possible
Gene: SDHAF1Comment on phenotypes: Mitochondrial complex II deficiency, 252011Created: 23 May 2019, 3:21 p.m.
Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated cases with functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex II deficiency (Version 0.16).Created: 23 May 2019, 3:20 p.m.
Source NHS GMS was added to SDHAF1. Source London North GLH was added to SDHAF1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Mitochondrial Respiratory Chain Complex II Deficiency; Isolated complex II deficiency for gene: SDHAF1
gene: SDHAF1 was added gene: SDHAF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHAF1 were set to 27604308 Phenotypes for gene: SDHAF1 were set to Mitochondrial Diseases; Mitochondrial complex II deficiency, 252011; Isolated complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors)