Mitochondrial disorders
Gene: 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.
Victorian Clinical Genetics Services was added to SURF1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for SURF1 were set to Isolated complex IV deficiency; Leigh syndrome, due to COX deficiency, 256000; Mitochondrial Diseases; Leigh Syndrome; Complex IV deficiency
Mode of inheritance for SURF1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for SURF1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SURF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SURF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SURF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
SURF1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory