Developmental Brain Disorder Gene Database

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

Intellectual Disability ● Autism ● Attention Deficit Hyperactivity Disorder ● Schizophrenia ● Bipolar Disorder ● Epilepsy ● Cerebral Palsy

Gene

LoF
Variants

Missense
Variants

Submit
Cases

Downloads

Additional
Information

Tiered Classification Methodology

Curated genotype and phenotype data are presented with a tiered classification of genes based on the number of de novo pathogenic loss-of-function (pLOF) variants observed, with the higher number of variants warranting a higher tier classification. These variants are defined as LOF nonsense, splice site, frameshift sequence variants, and single gene deletions that include one or more exons. For X-linked genes, de novo or maternally inherited pLOF variants are counted in the classification system.

Candidate genes are 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.

For more information, refer to: A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders (JAMA Psychiatry, March 2016)

High confidence candidate genes

Tier 1:

Genes with three or more de novo pathogenic loss-of-function variants

AR:

Genes with autosomal recessive inheritance

Emerging candidate genes

Tier 2:

Genes with two de novo pathogenic loss-of-function variant

Tier 3:

Genes with one de novo pathogenic loss-of-function variant

Tier 4:

Genes with no de novo pathogenic loss-of-function variant

Loss of Function Variants

Last Updated: November 4, 2024 Total Cases: 8261 Total Genes: 767

Clicking on any of Tiers below will show or hide from the table

Submit Cases

Investigators are encouraged to submit cases for inclusion in the Developmental Brain Disorder Gene 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 Gene 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
Gene2phenotype
denovo-db
DDG2P Database

Notice: November 2024 update just released with over 800 new curations!