1. Panels
  2. Cholestasis Victorian Clinical Genetics Services
This Panel is marked as Deleted

Cholestasis Victorian Clinical Genetics Services (Version 0.6)

Level 3: Liver disease
Level 2: Gastroenterological disorders

Panel types: External Diagnostic Lab
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.
Panel Activity

3 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Ivone Leong (Genomics England Curator)

    Group: Other
    Workplace: Other

78 Entities

4 reviewed, 77 green

List Entity Reviews Mode of inheritance Details
78 Entitiess
Green List (high evidence)
ABCB11
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ABCB4
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ABCC2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ABCG5
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ABCG8
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ADK
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AKR1D1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ALDOB
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AMACR
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ARG1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ATP7B
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ATP8B1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
BAAT
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CC2D2A
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFTR
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CLDN1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COG7
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CYP27A1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CYP7B1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DCDC2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DGUOK
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DHCR7
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FAH
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GALT
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GBA
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GBE1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HADHA
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HAMP
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HFE
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HFE2
1 review
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • new-gene-name
Green List (high evidence)
HNF1B
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HSD3B7
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
IARS
1 review
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
  • new-gene-name
Green List (high evidence)
INVS
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
JAG1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LIPA
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MKS1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MPI
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MPV17
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MVK
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NOTCH2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPC1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPC2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHP1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHP3
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHP4
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NR1H4
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX10
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX11B
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX12
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX13
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX14
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX16
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX19
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX26
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX3
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX5
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX6
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PEX7
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PKHD1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
POLG
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SERPINA1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC25A13
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC27A5
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC30A10
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC40A1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMPD1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TALDO1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TFR2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TJP2
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TMEM216
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TRMU
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
UGT1A1
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VIPAS39
0 reviews
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
VPS33B
1 review
 Not set
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber List (moderate evidence)
ABCA7
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Global developmental delay
  • Intellectual disability
  • Seizures
  • No OMIM number
Tags
  • watchlist

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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