The Developmental Disorders Genotype-Phenotype Database (DDG2P) is a curated list of genes reported to be associated with developmental disorders, compiled by clinicians as part of the DDD study to facilitate clinical feedback of likely causal variants. The list is categorised into the level of certainty that the gene causes developmental disease (confirmed or probable), the consequence of a mutation (loss-of function, activating, etc) and the allelic status associated with disease (monoallelic, biallelic, etc).
- Y The gene is confirmed as causing developmental disorder in multiple unrelated cases
- P The gene is probably associated with developmental disorders
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