| NF2 |
3 |
0 |
2020-09-08 |
| PTPN11 |
3 |
0 |
2020-09-08 |
| OTX2 |
3 |
0 |
2020-09-08 |
| COL4A5 |
3 |
0 |
2020-09-08 |
| CDK4 |
0 |
0 |
2020-09-02 |
| FAH |
30: Gene associated with autosomal recessive phenotype |
0 |
2020-09-02 |
| UBE2T |
30: Gene associated with autosomal recessive phenotype |
0 |
2020-09-01 |
| NIPBL |
3 |
1 |
2020-08-26 |
| RET |
3 |
0 |
2020-08-26 |
| BMPR2 |
3 |
0 |
2020-08-26 |
| PHF8 |
3 |
0 |
2020-08-26 |
| EYA1 |
3 |
0 |
2020-08-25 |
| NBN |
3 |
0 |
2020-08-21 |
| GREM1 |
0 |
0 |
2020-08-20 |
| 17q21.3 recurrent region (includes KANSL1) |
3 |
1 |
2020-08-10 |
| FOXC1 |
3 |
0 |
2020-07-29 |
| TBX5 |
3 |
0 |
2020-07-29 |
| COL2A1 |
3 |
0 |
2020-07-29 |
| NSD1 |
3 |
0 |
2020-07-27 |
| Xp21.2 region (includes NR0B1) |
0 |
3 |
2020-07-22 |
| NKX2-5 |
3 |
0 |
2020-07-22 |
| SDHB |
3 |
0 |
2020-07-22 |
| ALX4 |
3 |
0 |
2020-07-22 |
| ERCC3 |
30: Gene associated with autosomal recessive phenotype |
0 |
2020-06-30 |
| SATB2 |
3 |
0 |
2020-07-15 |
| CDKN1B |
3 |
0 |
2020-07-08 |
| TRPS1 |
3 |
0 |
2020-07-08 |
| EXT2 |
3 |
0 |
2020-06-23 |
| SHH |
3 |
0 |
2020-06-24 |
| PTCH1 |
3 |
0 |
2020-07-01 |
| TCF4 |
3 |
0 |
2020-07-08 |
| PAX9 |
3 |
0 |
2020-07-08 |
| ABCB11 |
30: Gene associated with autosomal recessive phenotype |
0 |
2020-07-08 |
| RAD51C |
3 |
0 |
2020-07-08 |
| FH |
3 |
0 |
2020-07-06 |
| NTHL1 |
30: Gene associated with autosomal recessive phenotype |
0 |
2020-07-06 |
| 15q25.2q25.3 recurrent region (LCR C-D, distal) |
1 |
0 |
2020-06-26 |
| BMPR1A |
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 |
