Belgian Genetic Tests database
Hearing loss (deafness) syndromic (59 genes) - UZA
| Full name: |
Hearing loss (deafness) syndromic (59 genes) - UZA
|
| Description: |
Last update: 24/12/2020
|
| Version number: |
Hearing loss syndromal_v13
|
| Created: |
04 Jul 2019 - 13:34
|
| Changed: |
28 Jun 2021 - 11:19
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ADGRV1 | |||
| ATP6V0A4 | |||
| ATP6V1B1 | |||
| BSND | |||
| CDH23 | |||
| CHD7 | |||
| CISD2 | |||
| CLPP | |||
| CLRN1 | |||
| COL11A1 | |||
| COL11A2 | |||
| COL2A1 | |||
| COL4A3 | |||
| COL4A4 | |||
| COL4A5 | |||
| COL9A1 | |||
| COL9A2 | |||
| COL9A3 | |||
| DIAPH1 | |||
| EDN3 | |||
| EDNRB | |||
| ERAL1 | |||
| EYA1 | |||
| HARS1 | |||
| HARS2 | |||
| HSD17B4 | |||
| KCNE1 | |||
| KCNQ1 | |||
| KITLG | |||
| LARS2 | |||
| MITF | |||
| MT-RNR1 | |||
| MT-TL1 | |||
| MT-TS1 | |||
| MYH9 | |||
| MYO7A | |||
| NARS2 | |||
| NDP | |||
| NLRP3 | |||
| PAX3 | |||
| PCDH15 | |||
| PDZD7 | |||
| POLR1C | |||
| POLR1D | |||
| SEMA3E | |||
| SIX1 | |||
| SIX5 | |||
| SLC26A4 | |||
| SLITRK6 | |||
| SNAI2 | |||
| SOX10 | |||
| TBC1D24 | |||
| TCOF1 | |||
| TWNK | |||
| USH1C | |||
| USH1G | |||
| USH2A | |||
| WFS1 | |||
| WHRN |