| 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 |
| ASTN2 |
1 |
0 |
2021-03-09 |
| FOXG1 |
3 |
0 |
2021-03-09 |
| RB1 |
3 |
0 |
2021-03-09 |
| DLL1 |
3 |
0 |
2021-03-09 |
| MECP2 |
3 |
0 |
2021-02-22 |
| PHF6 |
3 |
0 |
2021-02-24 |
| NR5A1 |
3 |
0 |
2021-02-24 |
| GDF5 |
3 |
0 |
2021-02-24 |
| Xq28 region (includes MECP2) |
0 |
3 |
2021-02-22 |
| CYLD |
3 |
0 |
2021-02-10 |
| FOXL2 |
3 |
0 |
2021-02-09 |
| CUL4B |
3 |
0 |
2021-02-09 |
| LAMP2 |
3 |
0 |
2021-02-09 |
| UPF3B |
3 |
0 |
2021-02-09 |
| MGP |
30: Gene associated with autosomal recessive phenotype |
0 |
2021-02-08 |
