Inborn errors of metabolismGene: SDHD
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: 2 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, 3:25 p.m.
Comment on list classification: Carl Fratter also confirmed that this gene should be promoted from red to green.
Created: 7 Mar 2016, 6:14 p.m.
Source NHS GMS was added to SDHD. Source London North GLH was added to SDHD.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHD
gene: SDHD was added gene: SDHD was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDHD were set to 27604308 Phenotypes for gene: SDHD were set to Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Diseases; Isolated complex II deficiency