Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Inborn errors of metabolism v1.47 LIAS Ivone Leong Source NHS GMS was added to LIAS.
Source London North GLH was added to LIAS.
Inborn errors of metabolism v0.4 LIAS Ellen McDonagh Added phenotypes Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: LIAS
Publications for gene LIAS were changed from to 27604308
Inborn errors of metabolism v0.4 LIAS Ellen McDonagh gene: LIAS was added
gene: LIAS was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462