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 |