Description
This panel has been generated from the list of diagnostic genes for Cholestasis from Victorian Clinical Genetics Services (VGCS), Australia, provided by Zornitza Stark (June 2018).

Inclusion criteria are that the genes have been reported as causative in at least two cases from unrelated families.

This panel will be used as one of the sources for the development of panels for Genomics England, denoted as Source :Victorian Clinical Genetics Services. 

All genes from any external source used in PanelApp Genomics England panels are reviewed based on PanelApp guidelines.

1 reviewer

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

77 Entities

1 reviewed, 77 green

List Entity Reviews Mode of inheritance Details
77 Entitiess
Green Green List (high evidence)
ABCB11
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ABCB4
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ABCC2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
ABCG5
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ABCG8
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ADK
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
AKR1D1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
ALDOB
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
AMACR
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ARG1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
ATP7B
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
ATP8B1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
BAAT
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
CC2D2A
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
CFTR
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
CLDN1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
COG7
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
CYP27A1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
CYP7B1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
DCDC2
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
DGUOK
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
DHCR7
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
FAH
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
GALT
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
GBA
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
GBE1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
HADHA
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
HAMP
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
HFE
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
HFE2
1 review
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • new-gene-name
Green Green List (high evidence)
HNF1B
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
HSD3B7
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
IARS
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
INVS
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
JAG1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
LIPA
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
MKS1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
MPI
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
MPV17
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
MVK
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NOTCH2
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NPC1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NPC2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
NPHP1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NPHP3
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NPHP4
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
NR1H4
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
PEX1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX10
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX11B
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX12
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
PEX13
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX14
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX16
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX19
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
PEX2
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX26
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX3
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX5
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
PEX6
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PEX7
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
PKHD1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
POLG
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
SERPINA1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
SLC25A13
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
SLC27A5
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
SLC30A10
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
SLC40A1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
SMPD1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
TALDO1
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
TFR2
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
TJP2
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
TMEM216
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
TRMU
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
UGT1A1
0 reviews
Not set
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Green Green List (high evidence)
VIPAS39
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Green Green List (high evidence)
VPS33B
0 reviews
Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

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