Description
This panel has been generated from the list of diagnostic genes for Renal cystic disease from Victorian Clinical Genetics Services (VCGS), Australia, provided by Zornitza Stark (December 2019).

This panel is being hosted in Genomics England PanelApp to allow systematic panel comparison between Genomics England PanelApp and PanelApp Australia.

The VCGS panel for Renal cystic disease is a Super panel. For the original VCGS Super panel, visit the PanelApp Australia site: https://panelapp.agha.umccr.org/panels/
Panel Activity

1 reviewer

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

102 Entities

3 reviewed, 101 green

List Entity Reviews Mode of inheritance Details
102 Entitiess
Green Green List (high evidence)
AHI1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Joubert syndrome 3, MIM#608629
Tags
Green Green List (high evidence)
ANKS6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
ARL13B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
ARL6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
ATXN10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
B9D1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
B9D2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBIP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
BBS9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
C2CD3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
C5orf42
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CC2D2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CCDC28B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP104
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP120
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP164
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP290
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP41
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CEP83
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
CSPP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
DCDC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
DDX59
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
DNAJB11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Tags
Green Green List (high evidence)
DYNC2H1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
DZIP1L
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 5, MIM#617610
Tags
Green Green List (high evidence)
EVC
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
EVC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
FAN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Interstitial nephritis, karyomegalic
Tags
Green Green List (high evidence)
FOXC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
GANAB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
GLIS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
HNF1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
HYLS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT122
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT140
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT172
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT27
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT43
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT57
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT74
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IFT81
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
INPP5E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
INVS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
IQCB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
KIAA0556
1 review
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
  • new-gene-name
Green Green List (high evidence)
KIAA0586
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
KIAA0753
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
KIF14
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
KIF7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
LZTFL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
MAPKBP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
MKKS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
MKS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
NEK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
NEK8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
NPHP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
NPHP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
NPHP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
OFD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
PDE6D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
PKD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
PKD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
PKHD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
POC1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
PRKCSH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
RPGRIP1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
SCLT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome type IX
  • Senior-Loken syndrome
Tags
Green Green List (high evidence)
SDCCAG8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
SLC41A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TCTN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TCTN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TCTN3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM107
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM138
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM216
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM231
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM237
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TMEM67
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TRAF3IP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TRIM32
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TSC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
TSC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
TTC21B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TTC8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
TXNDC15
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
UMOD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green Green List (high evidence)
WDPCP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
WDR19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
WDR34
1 review
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
  • new-gene-name
Green Green List (high evidence)
WDR35
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
WDR60
1 review
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
  • new-gene-name
Green Green List (high evidence)
XPNPEP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
ZNF423
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Red Red List (low evidence)
SEC63
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Polycystic liver disease 2, MIM#617004
Tags

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