Genes/Regions Recently Reviewed
| Gene/Region name | Haploinsufficiency score | Triplosensitivity score | Date reviewed |
|---|---|---|---|
| NKX2-5 | 1 | 0 | 2020-06-24 |
| PTCH1 | 3 | 0 | 2020-07-01 |
| 15q25.2q25.3 recurrent region (LCR C-D, distal) | 1 | 0 | 2020-06-26 |
| BMPR1A | 3 | 0 | 2020-06-24 |
| SHH | 3 | 0 | 2020-06-24 |
| GATA3 | 3 | 0 | 2020-06-24 |
| AUTS2 | 3 | 0 | 2020-06-24 |
| PTEN | 3 | 0 | 2020-06-24 |
| ZEB2 | 3 | 0 | 2020-06-24 |
| EXT2 | 3 | 0 | 2020-06-23 |
| EXT1 | 3 | 0 | 2020-06-17 |
| FANCE | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-06-12 |
| TSC2 | 3 | 0 | 2020-06-10 |
| PKD1 | 3 | 0 | 2020-06-10 |
| POLD1 | 1 | 0 | 2020-06-05 |
| ATR | 1 | 0 | 2020-06-05 |
| RAB39B | 3 | 0 | 2020-05-29 |
| ARID1A | 3 | 0 | 2020-05-27 |
| CYBB | 3 | 0 | 2020-05-27 |
| PAX3 | 3 | 0 | 2020-05-27 |
| TAB2 | 1 | 0 | 2020-05-27 |
| PHF21A | 2 | 0 | 2020-05-27 |
| MSH3 | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-05-08 |
| NR0B1 | 3 | 0 | 2020-05-05 |
| BARD1 | 3 | 0 | 2020-05-01 |
| G6PC3 | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-04-30 |
| CDH1 | 3 | 0 | 2020-04-10 |
| SMARCB1 | 3 | 0 | 2020-04-22 |
| XIST | 3 | 0 | 2020-04-22 |
| SMAD3 | 3 | 0 | 2020-04-22 |
| ZC4H2 | 3 | 0 | 2020-04-22 |
| SCN2A | 3 | 0 | 2020-04-22 |
| RASA1 | 3 | 0 | 2020-04-22 |
| CRKL | 1 | 0 | 2020-04-13 |
| CASP10 | 1 | 0 | 2020-04-10 |
| APOB | 3 | 0 | 2020-04-09 |
| PQBP1 | 3 | 0 | 2020-04-09 |
| FRMD7 | 3 | 0 | 2020-04-09 |
| CD40LG | 3 | 0 | 2020-04-08 |
| ATM | 3 | 0 | 2020-04-08 |
| IQSEC2 | 3 | 0 | 2020-04-07 |
| NR3C2 | 3 | 0 | 2020-04-06 |
Genes/Regions with Updated Scores
No scores were updated in the last 13 weeks