ArticleGenetics in medicine : official journal of the American College of Medical Genetics2024
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Automated extraction of functional biomarkers of verbal and ambulatory ability from multi-institutional clinical notes using large language models.Journal of neurodevelopmental disorders · 2025Article
- SYNGAP1 Syndrome and the Brain Gene Registry.Genes · 2025Review
- The expanding clinical and genetic spectrum of DYNC1H1-related disorders.Brain : a journal of neurology · 2025Article
- Phenotypic compatibility and specificity in genomic variant classification.European journal of human genetics : EJHG · 2024Article
- The Brain Gene Registry: a data snapshot.Journal of neurodevelopmental disorders · 2024Article
- Review
- Finding buried genetic test results in the electronic health record is inefficient and variable across institutions.Therapeutic advances in rare diseaseArticle
- The MED13L Foundation strategic research plan: a roadmap to the future.Therapeutic advances in rare diseaseArticle
Corrections and comments
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Authors and funding
21 authors.
Funding
Abstract
purposeClinically ascertained variants are under-utilized in neurodevelopmental disorder research. We established the Brain Gene Registry (BGR) to coregister clinically identified variants in putative brain genes with participant phenotypes. Here, we report 179 genetic variants in the first 179 BGR registrants and analyze the proportion that were novel to ClinVar at the time of entry and those that were absent in other disease databases.
methodsFrom 10 academically affiliated institutions, 179 individuals with 179 variants were enrolled into the BGR. Variants were cross-referenced for previous presence in ClinVar and for presence in 6 other genetic databases.
resultsOf 179 variants in 76 genes, 76 (42.5%) were novel to ClinVar, and 62 (34.6%) were absent from all databases analyzed. Of the 103 variants present in ClinVar, 37 (35.9%) were uncertain (ClinVar aggregate classification of variant of uncertain significance or conflicting classifications). For 5 variants, the aggregate ClinVar classification was inconsistent with the interpretation from the BGR site-provided classification.
conclusionA significant proportion of clinical variants that are novel or uncertain are not shared, limiting the evidence base for new gene-disease relationships. Registration of paired clinical genetic test results with phenotype has the potential to advance knowledge of the relationships between genes and neurodevelopmental disorders.
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