The relationship between UQCRQ and Leigh syndrome spectrum was evaluated using the ClinGen Clinical Validity Framework as of October 14, 2019. A single homozygous variant in UQCRQ has been reported in humans with Leigh syndrome spectrum in a single publication in 2008 (PMID: 18439546). The homozygous variant reported in this publication (PMID: 18439546) demonstrated complete penetrance in more than 20 affected individuals in a large consanguineous Israeli Bedouin kindred. Evidence supporting the gene-disease relationship between UQCRQ and Leigh syndrome spectrum includes case-level data of one proband and segregation data from the 2008 study. This gene-disease association is further supported by UQCRQ protein expression in brain. As there is currently only one publication demonstrating UQCRQ’s role in human disease, there is limited evidence to support the relationship between UQCRQ and autosomal recessive Leigh syndrome spectrum. This classification was approved by the NICHD U24 ClinGen Mitochondrial Disease Gene Curation Expert Panel on October 14, 2019 (SOP Version 7).
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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