Genes/Regions Recently Reviewed
| Gene/Region name | Haploinsufficiency score | Triplosensitivity score | Date reviewed |
|---|---|---|---|
| NRXN1 | 3 | 0 | 2021-06-08 |
| ERF | 3 | 0 | 2021-06-08 |
| SCN5A | 3 | 0 | 2021-06-08 |
| SOX9 upstream enhancer region | 3 | 1 | 2021-06-07 |
| PGK1 | 2 | 0 | 2021-05-26 |
| FGD1 | 3 | 0 | 2021-05-26 |
| ANOS1 | 3 | 0 | 2021-05-26 |
| ARID1B | 3 | 0 | 2021-05-26 |
| PPP2R5D | 1 | 0 | 2021-05-26 |
| NR4A2 | 1 | 0 | 2021-05-11 |
| ACSL4 | 1 | 0 | 2021-04-28 |
| NHS | 3 | 0 | 2021-04-28 |
| AP1S2 | 3 | 0 | 2021-04-28 |
| TCOF1 | 3 | 0 | 2021-04-28 |
| 13q12.12 recurrent region (includes SACS and SGCG) | 0 | 40: Dosage sensitivity unlikely | 2021-04-26 |
| ANKRD26 | 0 | 0 | 2021-04-14 |
| FAM175A | 0 | 0 | 2021-04-14 |
| NAA15 | 3 | 0 | 2021-04-13 |
| OFD1 | 3 | 0 | 2021-04-13 |
| MITF | 3 | 0 | 2021-04-13 |
| 16p13.11 recurrent region (BP2-BP3) (includes MYH11) | 3 | 2 | 2021-04-12 |
| 15q11.2 recurrent region (BP1-BP2) (includes NIPA1) | 3 | 40: Dosage sensitivity unlikely | 2021-04-12 |
| PLP1 | 3 | 3 | 2021-04-12 |
| FGFR1 | 3 | 0 | 2021-04-05 |
| RPS19 | 3 | 0 | 2021-03-24 |
| CHM | 3 | 0 | 2021-03-24 |
| ATP7A | 3 | 0 | 2021-03-24 |
| BTK | 3 | 0 | 2021-03-24 |
| GLA | 3 | 0 | 2021-03-24 |
| TIMM8A | 3 | 0 | 2021-03-24 |
Genes/Regions with Updated Scores
| Gene/Region Name | Old score | New score | Date changed |
|---|---|---|---|
| 13q12.12 recurrent region (includes SACS and SGCG) | Triplosensitivity score: 0 | Triplosensitivity score: 40: Dosage sensitivity unlikely | 04/23/2021 |
| 13q12.12 recurrent region (includes SACS and SGCG) | Haploinsufficiency score: 30: Gene associated with autosomal recessive phenotype | Haploinsufficiency score: 0 | 04/23/2021 |
| SCN5A | Haploinsufficiency score: 2 | Haploinsufficiency score: 3 | 06/08/2021 |
| ERF | Haploinsufficiency score: 2 | Haploinsufficiency score: 3 | 06/07/2021 |