Data is made freely available for research purposes. However, if this data is used in a publication, we request you cite our article about this database in JAMA Psychiatry.
Download full LoF summary data as a CSV file (from the LoF variant table)Tiered Classification Methology - Curated genotype and phenotype data is presented with a tiered classification of genes based on the number of de novo pathogenic loss-of-function (pLOF) variants. These variants are defined as LOF nonsense, splice site, and frameshift sequence variants and single gene deletions that include one or more exons. Candidate genes have been ranked into four tiers based on the strength of evidence, as outlined below. Genes with autosomal recessive inheritance have been placed in a separate category outside of the tiered ranking system.
Tier 1 111 Genes Genes with three or more de novo pathogenic loss-of-function variants |
Tier 2 52 Genes Genes with two de novo pathogenic loss-of-function variants |
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Tiers 1 and 2 are categorized as high confidence candidate genes
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Tier 3 99 Genes Genes with one de novo pathogenic loss-of-function variant |
Tier 4 178 Genes Genes with no de novo pathogenic loss-of-function variants |
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Tiers 3 and 4 are categorized as emerging candidate genes
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Submit Cases | View Reference Article |
Investigators are encouraged to submit cases for inclusion in the Developmental Brain Disorder Genes Database. To submit cases for review, please contact the site curator at: ajgonzalezmantilla@geisinger.edu |
The Developmental Brain Disorder Genes Database is based on research presented in:
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Download Data | Visit External Resources |
Download full LoF summary data as a CSV file (from the LoF variant table) Download full missense summary data as a CSV file (from the missense variant table) Download full database as a CSV file (all cases for all genes) |
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