Inherited white matter disorders
Gene: SURF1Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for COMPLEX IV DEFICIENCY, more than 3 unrelated cases and different variants reported in OMIM for Leigh syndrome, due to COX IV deficiency. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Mitochondrial complex IV disorders. Green gene in the Mitochondrial panel version 1.10 and ID panel version 1.2.Created: 25 Aug 2016, 1:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for SURF1 were set to Mitochondrial Leukoencephalopathy;Mitochondrial complex IV disorder;Leigh syndrome, due to COX IV deficiency
This gene has been classified as Green List (High Evidence).
SURF1 was added to Inherited white matter disorderspanel. Sources: Expert list
SURF1 was created by [email protected]