Genes/Regions Recently Reviewed
| Gene/Region name | Haploinsufficiency score | Triplosensitivity score | Date reviewed |
|---|---|---|---|
| HOXD13 | 3 | 0 | 2020-09-23 |
| FANCG | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-11-15 |
| FAH | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-09-02 |
| CDK4 | 0 | 0 | 2020-09-02 |
| CHM | 3 | 0 | 2020-11-11 |
| IKBKG | 3 | 0 | 2020-11-10 |
| SLC6A8 | 3 | 0 | 2020-11-10 |
| IDS | 3 | 0 | 2020-11-10 |
| LMX1B | 3 | 0 | 2020-11-10 |
| TSC1 | 3 | 0 | 2020-10-13 |
| 1q21.2 region (polymorphic region)(non-unique; also maps to chromosomes 16, 7, and others in GRCh38) | 40: Dosage sensitivity unlikely | 40: Dosage sensitivity unlikely | 2020-10-22 |
| JAG1 | 3 | 0 | 2020-10-19 |
| LEMD3 | 3 | 0 | 2020-10-19 |
| GATA1 | 0 | 0 | 2020-10-14 |
| DIS3L2 | 1 | 0 | 2020-10-14 |
| DNAJC21 | 1 | 0 | 2020-10-14 |
| F8 | 3 | 0 | 2020-10-13 |
| KCNQ1 | 3 | 0 | 2020-10-13 |
| PAFAH1B1 | 3 | 0 | 2020-10-13 |
| RAI1 | 3 | 0 | 2020-10-13 |
| 17q11.2 recurrent region (includes NF1) | 3 | 2 | 2020-10-12 |
| CDKN1C | 3 | 0 | 2020-09-25 |
| SIX3 | 3 | 0 | 2020-09-23 |
| TBX3 | 3 | 0 | 2020-09-23 |
| NF2 | 3 | 0 | 2020-09-08 |
| PTPN11 | 3 | 0 | 2020-09-08 |
| OTX2 | 3 | 0 | 2020-09-08 |
| COL4A5 | 3 | 0 | 2020-09-08 |
| UBE2T | 30: Gene associated with autosomal recessive phenotype | 0 | 2020-09-01 |
Genes/Regions with Updated Scores
No scores were updated in the last 13 weeks