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Great care must be taken when analysing MPS data in isolation from accurate phenotypic information, as this can cause misdiagnosis. <jats:bold>Methods<\/jats:bold>: Here, we describe a family trio, recruited to the Genomics England 100,000 Genomes Project, labelled as having cystic kidney disease, who were genetically unsolved following routine data analysis pipelines. We performed a bespoke reanalysis of Whole Genome Sequencing (WGS) data and coupled this with revised phenotypic data and targeted PCR and Sanger sequencing to provide a precise molecular genetic diagnosis. <jats:bold>Results<\/jats:bold>: We detected a heterozygous <jats:italic>PKD1<\/jats:italic> frameshift variant within the WGS data which segregated with the redefined ADPKD phenotypes. An additional heterozygous exon deletion in <jats:italic>ALG8<\/jats:italic> was also found in affected and unaffected individuals, but its precise clinical significance remains unclear. <jats:bold>Conclusion<\/jats:bold>: This case illustrates that reanalysis of WGS data in unsolved cases of cystic kidney disease is valuable. Clinical phenotypes must be reassessed as these may have been incorrectly recorded and evolve over time. Undertaking additional studies including genotype\u2010phenotype correlation in wider family members provides useful diagnostic information.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12508","type":"journal-article","created":{"date-parts":[[2023,4,12]],"date-time":"2023-04-12T07:04:11Z","timestamp":1681283051000},"page":"76-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data"],"prefix":"10.1111","volume":"88","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2373-8355","authenticated-orcid":false,"given":"Sarah","family":"Orr","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1178-7980","authenticated-orcid":false,"given":"Eric","family":"Olinger","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sotia","family":"Iosifidou","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8245-1929","authenticated-orcid":false,"given":"Miguel","family":"Barroso\u2010Gil","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0639-2175","authenticated-orcid":false,"given":"Ruxandra","family":"Neatu","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrina","family":"Wood","sequence":"additional","affiliation":[{"name":"Histopathology Department The Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6893-2873","authenticated-orcid":false,"given":"Ian","family":"Wilson","sequence":"additional","affiliation":[{"name":"Biosciences Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1881-3782","authenticated-orcid":false,"given":"John Andrew","family":"Sayer","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"},{"name":"Renal Services Centre The Newcastle upon Tyne Hospitals NHS Foundation Trust  Newcastle upon Tyne UK"},{"name":"National Institute for Health Research Newcastle Biomedical Research Centre  Newcastle upon Tyne UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,12]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467\u2010019\u201004267\u2010x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.01.114"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22103"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2019030298"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI96729"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.mcb.2019.04.011"},{"key":"e_1_2_10_8_1","unstructured":"Caulfield M. 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