Inborn errors of metabolismGene: TSFM
Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel
Created: 21 Mar 2017, 10:23 a.m.
Comment on phenotypes: Multiple respiratory chain complex deficiencies (disorders of protein synthesis);
Created: 21 Mar 2017, 9:57 a.m.
Source NHS GMS was added to TSFM. Source London North GLH was added to TSFM.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Combined oxidative phosphorylation deficiency 3 610505; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: TSFM Publications for gene TSFM were changed from 27604308; 25037205; 17033963 to 27604308
gene: TSFM was added gene: TSFM was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSFM were set to 27604308; 25037205; 17033963 Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505