Genes/Regions Recently Reviewed
| Gene/Region name | Haploinsufficiency score | Triplosensitivity score | Date reviewed |
|---|---|---|---|
| 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 |
| CHAMP1 | 2 | 0 | 2020-03-25 |
| 2q11.2 recurrent region (includes ARID5A, LMAN2L) | 1 | 1 | 2020-02-28 |
| 15q13 recurrent region (BP3-BP4) (includes APBA2) | 0 | 0 | 2020-03-09 |
| PAX2 | 3 | 0 | 2020-02-26 |
| FGF10 | 3 | 0 | 2020-02-26 |
| MEF2C | 3 | 1 | 2020-02-26 |
| KCNH2 | 3 | 0 | 2020-02-26 |
| FLG | 3 | 0 | 2020-02-26 |
Genes/Regions with Updated Scores
| Gene/Region Name | Old score | New score | Date changed |
|---|---|---|---|
| 13q12.12 recurrent region (includes SACS and SGCG) | Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype | Haploinsufficiency score: 0 | 02/28/2020 |
| 2q11.2 recurrent region (includes ARID5A, LMAN2L) | Haploinsufficiency score: 2 | Haploinsufficiency score: 1 | 02/28/2020 |