Description
This panel has been generated from the list of diagnostic genes for Renal ciliopathies and nephronophthisis 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.

For the original VCGS panel, visit the PanelApp Australia site: https://panelapp.agha.umccr.org/panels/
Panel Activity

1 reviewer

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

89 Entities

3 reviewed, 89 green

List Entity Reviews Mode of inheritance Details
89 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)
DYNC2H1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
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)
GLIS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop 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)
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)
POC1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop 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)
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)
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

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