CAPN5 was first reported in relation to autosomal dominant CAPN5-related vitreoretinopathy in 2012 in a patient described with described as neovascular inflammatory vitreoretinopathy, (Mahajan et al, PMID: 23055945). Six variants (all missense), reported in 10 probands in 6 publications (Mahajan et al, 2012, PMID: 23055945; Bassuk et al, 2015, PMID: 25856303; Randazzo et al, 2017, PMID: 29040051; Velez et al, 2018, PMID: 29472286; O’Keefe et al, 2019, PMID: 30986125; Tang et al, 2020, PMID: 32274441) are included in this curation, in addition to segregation data from analysis of a large family (Stone et al, 1992, PMID: 1284594) (Total Genetic Evidence: 7.8 points). This gene-disease association is also supported by experimental evidence including expression data from RNA-Seq analysis (Schaefer et al, 2016, PMID: 27152965) and the phenotype observed in mouse models (Wert et al, 2014, PMID: 24381307; Wert et al, 2015, PMID: 25994508). In summary, CAPN5 is definitively associated with autosomal dominant CAPN5-related vitreoretinopathy. This classification was approved by the ClinGen Retina GCEP on August 5, 2021.
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