Description
This panel has been generated from the list of diagnostic genes for the Kidneyome Super panel 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 Kidneyome 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

360 Entities

3 reviewed, 334 green

List Entity Reviews Mode of inheritance Details
360 Entitiess
Green Green List (high evidence)
ACE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ACTN4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ADAMTS13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AGTR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
Tags
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)
ALMS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AMN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Megaloblastic anemia-1, Norwegian type, MIM#261100
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)
ANLN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ANOS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
AP2S1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
APOA1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, 3 or more types, MIM#105200
Tags
Green Green List (high evidence)
APOE
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lipoprotein glomerulopathy, MIM#611771
Tags
Green Green List (high evidence)
APRT
0 reviews
 Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM#614723
Tags
Green Green List (high evidence)
AQP2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic, MIM#125800
Tags
Green Green List (high evidence)
ARHGAP24
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ARHGDIA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
ATP6V0A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Tags
Green Green List (high evidence)
ATP6V1B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
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)
AVPR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies 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)
BCS1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
BICC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BMP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
BSND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Bartter syndrome, Type 4a, MIM#602522
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)
C3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
CA2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CACNA1D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
CACNA1H
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
CASR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
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)
CD151
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Tags
Green Green List (high evidence)
CD2AP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CD46
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CDC73
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
CENPF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stromme syndrome, MIM#243605
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)
CEP55
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500
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)
CFB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFH
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Complement factor H deficiency, MIM#609814
Tags
Green Green List (high evidence)
CFHR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFHR5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CFI
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CHD1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CHD7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CLCN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
CLCN5
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
  • Dent disease, MIM#300009
Tags
Green Green List (high evidence)
CLCNKA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CLCNKB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CLDN10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
CLDN16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CLDN19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CNNM2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
COL4A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Tags
Green Green List (high evidence)
COL4A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL4A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COL4A5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COQ2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COQ6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
COQ7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8, MIM#616733
Tags
Green Green List (high evidence)
COQ8B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 9, MIM#615573
Tags
Green Green List (high evidence)
COQ9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
CPT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
CRB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
CTNS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
CTU2
0 reviews
 Unknown
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CUBN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CUL3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
CYP11B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
CYP11B2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
CYP17A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
CYP21A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
CYP24A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CYP27B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
CYP2R1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos 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)
DGKE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DHCR7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DMP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos 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)
DSTYK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
EGF
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
EGFR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
EHHADH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
EMP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ENPP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos 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)
EXOC3L2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • bone marrow failure
  • Dandy-Walker malformation
  • renal dysplasia
Tags
Green Green List (high evidence)
EYA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
FAM111A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
FAM20A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAM58A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
FAT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, familial visceral, MIM#105200
Tags
Green Green List (high evidence)
FGF10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGF23
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
FGF8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGFR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGFR3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Green Green List (high evidence)
FN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FOXC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FRAS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FREM1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FREM2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FXYD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
GALNT3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos 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)
GATA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GATM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
GLA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
GLI3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
GNA11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GPC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GREB1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GRHPR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GRIP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GSN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, Finnish type, MIM#105200
Tags
Green Green List (high evidence)
HAAO
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660
Tags
Green Green List (high evidence)
HNF1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • KidGen_Cystic v38.1.0
  • KidGen_Tubulointerstitial v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal cysts and diabetes syndrome, MIM#137920
Tags
Green Green List (high evidence)
HNF4A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HOGA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HOXA13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPRT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPSE2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HSD11B2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
HSD17B4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal 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)
INF2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
ITGA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITGA8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
JAG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KANK2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 16, MIM#617783
Tags
Green Green List (high evidence)
KCNA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
KCNJ1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
KCNJ5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
KDM6A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
KL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
KLHL3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
KMT2D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
KYNU
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661
Tags
Green Green List (high evidence)
LAGE3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LAMA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome
Tags
Green Green List (high evidence)
LAMB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LCAT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
LIFR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LMX1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LRIG2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LRP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LYZ
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Amyloidosis, renal, MIM#105200
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)
MAGED2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MAGI2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
MMACHC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Tags
Green Green List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
  • KidGen_Tubulointerstitial v38.1.0
Tags
Green Green List (high evidence)
MUT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
MYH9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYO1E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
MYOCD
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • congenital heart disease
  • Megabladder
  • cardiomyopathy
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)
NIPBL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NLRP3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muckle-Wells syndrome, MIM#191900
Tags
Green Green List (high evidence)
NOTCH2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
  • Victorian Clinical Genetics Services
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)
NPHS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NPHS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NR3C1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
NR3C2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
NUP107
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
NUP133
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 18, MIM#618177
Tags
Green Green List (high evidence)
NUP85
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 17, MIM#618176
Tags
Green Green List (high evidence)
NUP93
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome, type 12, MIM#616892
Tags
Green Green List (high evidence)
OCRL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Dent disease 2, MIM#300555
  • Lowe syndrome, MIM#309000
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)
OSGEP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PAX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glomerulosclerosis, focal segmental, 7, MIM#616002
Tags
Green Green List (high evidence)
PBX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PCBD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
PDE3A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension 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)
PDSS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PHEX
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos 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)
PLCE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
PTH1R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
PTPRO
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
REN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RMND1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
ROBO2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ROR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
RRM2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
SALL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SALL4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SARS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
SBDS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green Green List (high evidence)
SCARB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SCLT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Senior-Loken syndrome
  • Orofaciodigital syndrome type IX
Tags
Green Green List (high evidence)
SCNN1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
SCNN1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
SCNN1G
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
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)
SEC61A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Tags
Green Green List (high evidence)
SGPL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SIX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SIX2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SIX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC12A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC22A12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC26A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC2A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC2A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC34A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC34A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC3A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
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)
SLC4A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC4A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC7A7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green Green List (high evidence)
SLC7A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLC9A3R1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLIT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SMARCAL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SOX17
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SRGAP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STRA6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Microphthalmia, isolated, with coloboma 8, MIM#601186
Tags
Green Green List (high evidence)
STX16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
TBC1D1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBC1D8B
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 20, MIM# 301028
Tags
Green Green List (high evidence)
TBX18
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
TFAP2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
THBD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
TNXB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TP53RK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TPRKB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
TRAP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
TRPC6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRPM6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium 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
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 12, MIM#613820
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
  • KidGen_Tubulointerstitial v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
VDR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
VIPAS39
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
VPS33B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies 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)
WDR73
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WNK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
WNK4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green Green List (high evidence)
WNT4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WNT5A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Robinow syndrome, autosomal dominant 1, MIM#180700
Tags
Green Green List (high evidence)
WT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
XDH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
XPNPEP3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green Green List (high evidence)
ZIC3
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • VACTERL association, X-linked, MIM#314390
Tags
Green Green List (high evidence)
ZNF423
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Amber Amber List (moderate evidence)
ADCY10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypercalciuria, absorptive, susceptibility to, MIM#143870
Tags
Amber Amber List (moderate evidence)
APOL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Tags
Amber Amber List (moderate evidence)
BMP7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Amber Amber List (moderate evidence)
CDC5L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Amber Amber List (moderate evidence)
DACT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Townes-Brocks syndrome 2, MIM#617466
Tags
Amber Amber List (moderate evidence)
FGF20
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Renal hypodysplasia/aplasia 2, MIM#615721
Tags
Amber Amber List (moderate evidence)
KANK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Nephrotic syndrome
Tags
Amber Amber List (moderate evidence)
KANK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SOX11
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Amber Amber List (moderate evidence)
VTN
0 reviews
 Unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
XPO5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Nephrotic syndrome
Tags
Red Red List (low evidence)
CDX2
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
COL4A2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Brain small vessel disease 2, MIM#614483
Tags
Red Red List (low evidence)
COQ8A
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4, MIM#612016
Tags
Red Red List (low evidence)
EZH2
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FGFR1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HOXA4
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HOXB6
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
ITGB4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Tags
Red Red List (low evidence)
LMNA
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • FSGS
  • Familial partial lipodystrophy
Tags
Red Red List (low evidence)
NUP160
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nephrotic syndrome, type 19, MIM#618178
Tags
Red Red List (low evidence)
NUP205
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome, type 13, MIM#616893
Tags
Red Red List (low evidence)
NUP37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome
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
Red Red List (low evidence)
SEMA3A
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
UPK3A
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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