Developmental Brain Disorder Genes Database

A curated resource for researchers & clinicians providing genotype and phenotype data from six neurodevelopmental disorders obtained from published literature.

Intellectual Disability Autism Attention Deficit Hyperactivity Disorder Schizophrenia Bipolar Disorder Epilepsy


Tiered Classification Methodology

Tiers 1 and 2 are categorized as high confidence candidate genes
Tier 1
Genes with three or more de novo pathogenic loss-of-function variants
Tier 2
Genes with two de novo pathogenic loss-of-function variants
Tiers 3 and 4 are categorized as emerging candidate genes
Tier 3
Genes with one de novo pathogenic loss-of-function variant
Tier 4
Genes with no de novo pathogenic loss-of-function variant
AR is categorized as high confidence candidate genes
AR
Genes with autosomal recessive inheritance

Total Cases: 6504
Last Updated: December 31, 2019

Total Genes: 602
Tier 1: 150 genes Tier 2: 71 genes Tier 3: 108 genes Tier 4: 156 genes AR: 117 genes

Gene Tier De novo Inherited Unknown Total Disorders
Note: Only missense variants from papers published since 2018 have been included.
Last Updated: December 31, 2019

Total genes: 357

Total cases: 3517

Gene De novo Inherited Unknown Total Disorders
Submit Cases

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: hshimelis@geisinger.edu

Download Data

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)
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)

Additional Information:

The Developmental Brain Disorder Genes Database is based on research presented in:
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders (JAMA Psychiatry, March 2016)

Visit External Resources:
SFARI gene
Developmental Brain Disorders Database
Gene2phenotype