The relationship between PTCD3 and Leigh syndrome spectrum was evaluated using the ClinGen Clinical Validity Framework as of June 9, 2019. PTCD3 was first reported in relation to autosomal recessive Leigh syndrome spectrum in 2019 (Borna et al., PMID 30607703). There are no variants in this gene listed in ClinVar. Evidence supporting this gene-disease relationship includes case-level data (PMID 30607703) to reach a case-level evidence score of 2.5 points. This gene-disease association is further supported by the function of the gene product and expression studies, reaching an experimental score of 2 points. The mechanism for disease is impaired mitochondrial translation. In summary, PTCD3 currently has a limited association with autosomal recessive Leigh syndrome spectrum. This classification was approved by the NICHD U24 ClinGen Mitochondrial Disease Gene Curation Expert Panel on June 10, 2019 (SOP Version 6).
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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