Inborn errors of metabolismGene: SURF1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 10 Feb 2016, 9:53 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted. Confirmed DD gene for complex IV deficiency and Leigh syndrome.
Created: 10 Feb 2016, 9:52 a.m.
Source NHS GMS was added to SURF1. Source London North GLH was added to SURF1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial Diseases; Complex IV deficiency; Leigh Syndrome; Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: SURF1 Publications for gene SURF1 were changed from to 27604308
gene: SURF1 was added gene: SURF1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SURF1 were set to Mitochondrial Diseases; Complex IV deficiency; Isolated complex IV deficiency; Leigh Syndrome; Leigh syndrome, due to COX deficiency, 256000