Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 SDHD Ivone Leong Source NHS GMS was added to SDHD.
Source London North GLH was added to SDHD.
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHD Ellen McDonagh Added phenotypes Mitochondrial Diseases; Isolated complex II deficiency for gene: SDHD
Likely inborn error of metabolism - targeted testing not possible v0.4 SDHD Ellen McDonagh 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