Genes/Regions Recently Reviewed
| Gene/Region name | Haploinsufficiency score | Triplosensitivity score | Date reviewed |
|---|---|---|---|
| CCNQ | 2 | 0 | 2021-12-01 |
| FGF12 | 0 | 1 | 2021-12-01 |
| TUSC3 | 30: Gene associated with autosomal recessive phenotype | Not yet evaluated | 2021-12-01 |
| ARHGEF9 | 3 | 0 | 2021-11-24 |
| SGCE | 3 | 0 | 2021-11-11 |
| STK11 | 3 | 0 | 2021-11-10 |
| CHEK1 | 0 | 0 | 2021-11-10 |
| TP53 | 3 | 0 | 2021-11-10 |
| GABRA1 | 1 | 0 | 2021-11-09 |
| SYNGAP1 | 3 | 0 | 2021-11-09 |
| PIGA | 2 | 0 | 2021-11-09 |
| EMX2 | 1 | 0 | 2021-11-09 |
| BMP4 | 2 | 0 | 2021-11-09 |
| PAX8 | 1 | 0 | 2021-11-09 |
| LDLR | 3 | 0 | 2021-10-27 |
| SPINK1 | 3 | 0 | 2021-10-25 |
| ZNF592 | 0 | 0 | 2021-10-14 |
| MSH2 | 3 | 0 | 2021-10-13 |
| MLH1 | 3 | 0 | 2021-10-13 |
| SDHC | 3 | 0 | 2021-10-13 |
| MSH6 | 3 | 0 | 2021-10-13 |
| DSP | 3 | 0 | 2021-10-12 |
| ZDHHC9 | 3 | 0 | 2021-10-12 |
| CTNND2 | 1 | 0 | 2021-10-12 |
| BRCA1 | 3 | 0 | 2021-09-23 |
| CTCF | 3 | 0 | 2021-09-22 |
| MAGT1 | 3 | 0 | 2021-09-22 |
| RNF135 | 0 | 0 | 2021-09-22 |
| CFC1 | 0 | 0 | 2021-09-22 |
| ZFPM2 | 1 | 0 | 2021-09-20 |
| HMGA2 | 1 | 0 | 2021-09-14 |
| MEIS2 | 3 | 0 | 2021-09-14 |
Genes/Regions with Updated Scores
| Gene/Region Name | Old score | New score | Date changed |
|---|---|---|---|
| MAGT1 | Haploinsufficiency score: 1 | Haploinsufficiency score: 3 | 09/22/2021 |
| ZNF592 | Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype | Haploinsufficiency score: Not yet evaluated | 09/29/2021 |
| PAX8 | Haploinsufficiency score: 2 | Haploinsufficiency score: 1 | 09/13/2021 |
| MEIS2 | Haploinsufficiency score: 2 | Haploinsufficiency score: 3 | 09/03/2021 |
| RNF135 | Haploinsufficiency score: 2 | Haploinsufficiency score: 0 | 09/21/2021 |
| GABRA1 | Haploinsufficiency score: 2 | Haploinsufficiency score: 1 | 11/03/2021 |
| ARHGEF9 | Haploinsufficiency score: 2 | Haploinsufficiency score: 3 | 10/16/2021 |
| DSP | Haploinsufficiency score: 1 | Haploinsufficiency score: 3 | 09/13/2021 |
| CTNND2 | Haploinsufficiency score: 2 | Haploinsufficiency score: 1 | 10/12/2021 |
| HMGA2 | Haploinsufficiency score: 3 | Haploinsufficiency score: 1 | 09/14/2021 |