Patients data for meta-analysis of genotype-phenotype associations in Bardet-Biedl Syndrome

Data used for metaanalysis of the genotype-phenotype relationship in Bardet Biedl Syndrome.

File "EV table 1 literature.xlsx" describes studies that were included in the metaanalysis. File "EV table 2 dataset.xlsx" contains individual patient data. Each row corresponds to a patient. If the same patient was reported in more than 1 study, their data were merged into one row. The columns are as follows:

* source - a citation to the study the patient originated in

* FamilyID - randomly generated ID of a family (unique over the dataset), two persons with the same FamilyID are related.

* source case n. - A unique identifier of the patient within the study

* gene - A gene carrying the principal BBSome related mutation

* nucleotide change (allele 1,2)  - description of the mutations in DNA individual alleles of the gene, in HGVS nomenclature

* protein change (allele 1,2)  - description of how the mutations in DNA change the resulting protein, in HGVS nomenclature

* type of mut allele 1,2 - whether the given mutation  is considered missense (MS) or large truncation (trunc)

* mut/mut - combination of mutations for both alleles

* additional mutations - mutations in other BBSome-related genes. Format is "gene: DNA mutation, protein mutation"

* sex - "F" or "M"  (where reported)

* age group - age group (where reported)

* age - age in years. Contains fractions, decimal values and "5 month"

* RD, OBE, PD, CI, REP, REN, HEART, LIV, DD - presense or absence of phenotypes, if reported. RD – retinal dystrophy, OBE – obesity, PD – polydactyly, CI – cognitive impairment , REP – reproductive system anomalies, REN – renal anomalies, HRT – heart disease, LIV – liver anomalies, DD - Developmental delay. Values are "" (not reported), "0" (no phenotype), "1" (phenotype present), "1!" conflicting reports of phenotype in multiple studies (some patients were involved in multiple studies)

* ethnicity - ethnicity of the patient, if reported

* ethinc group - grouping of the ethnicities into 8 larger groups (see paper for details)

* note - miscellanous text, in particular contains notes on patients merged from multiple studies

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The protocol for this meta-analysis was pre-registered with PROSPERO (CRD42018096099).

PubMed and Google Scholar databases were searched in May 2018 for the following keywords: [bardet-biedl syndrome AND (genotype phenotype OR cohort)]. Other suitable records were identified by snowball searching, in particular, by retrieving relevant articles from the references of the studied full-texts. In addition, all the references included in the publicly available Euro-Wabb database (https://lovd.euro-wabb.org/home.php) were covered. Our search was limited to the literature published in English language and covered the period from the inception of each database to the 21st of May 2018.