Belgian Genetic Tests database
Cholestasis (40 genes) - UCL
| Full name: |
Cholestasis (40 genes) - UCL
|
| Abbreviation: |
Panel GP
|
| Type of panel: | |
| Laboratory: | |
| Created: |
06 Nov 2019 - 15:37
|
| Changed: |
02 Feb 2022 - 09:37
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| ABCB11 | 100.00 | 1 | Part of Gastro-pneumo panel |
| ABCB4 | 100.00 | 1 | Part of Gastro-pneumo panel |
| AKR1D1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| AMACR | 100.00 | 1 | Part of Gastro-pneumo panel |
| ATP8B1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| BAAT | 100.00 | 1 | Part of Gastro-pneumo panel |
| BCS1L | 100.00 | 1 | Part of Gastro-pneumo panel |
| CC2D2A | 100.00 | 1 | Part of Gastro-pneumo panel |
| CLDN1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| CYP27A1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| CYP7B1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| DCDC2 | 100.00 | 1 | Part of Gastro-pneumo panel |
| DGUOK | 100.00 | 1 | Part of Gastro-pneumo panel |
| HNF1B | 100.00 | 1 | Part of Gastro-pneumo panel |
| HSD3B7 | 100.00 | 1 | Part of Gastro-pneumo panel |
| INVS | 100.00 | 1 | Part of Gastro-pneumo panel |
| JAG1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| MKS1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| MPV17 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NOTCH2 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NPC1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NPC2 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NPHP1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NPHP3 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NPHP4 | 100.00 | 1 | Part of Gastro-pneumo panel |
| NR1H4 | 100.00 | 1 | Part of Gastro-pneumo panel |
| PKHD1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| PNPLA3 | 0.00 | 1 | Part of Gastro-pneumo panel / only rs738409 and rs2294918 |
| POLG | 100.00 | 1 | Part of Gastro-pneumo panel |
| SLC25A13 | 100.00 | 1 | Part of Gastro-pneumo panel |
| SMPD1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| TALDO1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| TJP2 | 100.00 | 1 | Part of Gastro-pneumo panel |
| TM6SF2 | 0.00 | 1 | Part of Gastro-pneumo panel / only rs58542926 |
| TMC4 | 0.00 | 1 | Part of Gastro-pneumo panel / only rs641738 |
| TMEM216 | 100.00 | 1 | Part of Gastro-pneumo panel |
| TRMU | 100.00 | 1 | Part of Gastro-pneumo panel |
| UGT1A1 | 100.00 | 1 | Part of Gastro-pneumo panel |
| VIPAS39 | 100.00 | 1 | Part of Gastro-pneumo panel |
| VPS33B | 100.00 | 1 | Part of Gastro-pneumo panel |