Table 1.
Changes to DDG2P over time
July, 2012 | November, 2012 | July, 2013 | November, 2013 | |
---|---|---|---|---|
Total reportable genes* | 819 | 875 | 1075 | 1128 |
Genes added | .. | 60 | 201 | 60 |
Genes removed† | .. | 4 | 1 | 7 |
In addition to genes being added or removed, annotations for existing genes can also change (eg, to include multiple modes or mechanisms). The November, 2013 version was used for the analysis presented here and includes 1128 reportable genes. DDG2P=Developmental Disorders Genotype-to-Phenotype database.
DDG2P also contains non-reportable categories when there is insufficient evidence associating a gene and developmental disorder (appendix 1).
The selection of variants for reporting is based on the strongest available evidence of gene function and no variants yet reported have been retracted because of changes in the DDG2P list.