1. Panels
  2. Kidneyome_SuperPanel_VCGS
This Panel is marked as Deleted

Kidneyome_SuperPanel_VCGS (Version 0.3)

Level 2: Renal and urinary tract disorders

Panel types: External Diagnostic Lab
Description
This panel has been generated from an updated renal superpanel (Kidneyome) from Victorian Clinical Genetics Services (VCGS), Australia, provided by Zornitza Stark (January 2020).

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

375 Entities

3 reviewed, 305 green

List Entity Reviews Mode of inheritance Details
375 Entitiess
Green List (high evidence)
ACE
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ACTG2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Visceral myopathy, MIM#155310
Tags
Green List (high evidence)
ACTN4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ADAMTS9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephronophthisis-Related Ciliopathy
Tags
Green List (high evidence)
AGT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AGTR1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
Tags
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 List (high evidence)
ALMS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
ANKS6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
ANOS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AP2S1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
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 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 List (high evidence)
APRT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM#614723
Tags
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 List (high evidence)
ARHGDIA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ARL13B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
ARL6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
ATP1A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036
  • Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314
Tags
Green List (high evidence)
ATP6V0A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Tags
Green List (high evidence)
ATP6V1B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
AVPR2
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Diabetes insipidus, nephrogenic 304800
  • Nephrogenic syndrome of inappropriate antidiuresis 300539
Tags
Green List (high evidence)
B9D2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BBS9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
BCS1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
BMP4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Green List (high evidence)
BNC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lower urinary tract obstruction, congenital
  • OMIM #618612
Tags
Green List (high evidence)
BSND
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bartter syndrome, Type 4a, MIM#602522
Tags
Green List (high evidence)
C3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CA2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
CACNA1D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
CACNA1H
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
CASR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
Tags
Green List (high evidence)
CC2D2A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CD151
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057
Tags
Green List (high evidence)
CD46
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CDC73
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
CENPF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Stromme syndrome, MIM#243605
Tags
Green List (high evidence)
CEP104
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CEP164
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CEP290
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CEP41
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
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 List (high evidence)
CEP83
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CFB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
CFHR1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFHR2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • C3 glomerulopathy
  • IC-MPGN
  • Immune complex MPGN
  • C3G
Tags
Green List (high evidence)
CFHR3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CFHR5
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephropathy due to CFHR5 deficiency, MIM#614809
Tags
Green List (high evidence)
CFI
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CHD1L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Green List (high evidence)
CHD7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CHRNA3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • dysautonomia
  • CAKUT
Tags
Green List (high evidence)
CLCN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
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
Phenotypes
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990
  • Dent disease, MIM#300009
Tags
Green List (high evidence)
CLCNKA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #613090
  • Bartter syndrome, type 4b, digenic
Tags
Green List (high evidence)
CLCNKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM #607364
  • Bartter syndrome, type 3
Tags
Green List (high evidence)
CLDN10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
CLDN16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
CLDN19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
CNNM2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
COL4A1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773
Tags
Green List (high evidence)
COL4A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COL4A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COL4A5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COQ2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
COQ6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
CPT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CRB2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Ventriculomegaly with cystic kidney disease, MIM#219730
Tags
Green List (high evidence)
CSPP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
CTNS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CTU2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
Tags
Green List (high evidence)
CUBN
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
CUL3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
CYP11B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP11B2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
CYP17A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP21A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP24A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
CYP27B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
CYP2R1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
DDX59
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
DGKE
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DHCR7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #270400
  • Smith-Lemli-Opitz syndrome
Tags
Green List (high evidence)
DLC1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neprhotic syndrome
Tags
Green List (high evidence)
DMP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
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 List (high evidence)
DSTYK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
DYNC2H1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
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 List (high evidence)
EGF
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
EGFR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
EMP2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ENPP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
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 List (high evidence)
EYA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FAH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
FAM111A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
FAM20A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FAM58A
0 reviews
 Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • STAR syndrome, MIM# 300707
Tags
Green List (high evidence)
FAN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Interstitial nephritis, karyomegalic
Tags
Green List (high evidence)
FAT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
FGF23
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
FN1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Glomerulopathy with fibronectin deposits 2, MIM#601894
Tags
Green List (high evidence)
FRAS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FREM1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FREM2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
FXYD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
GALNT3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
GANAB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
GATA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GATM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
GLA
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fairy disease, MIM#301500
Tags
Green List (high evidence)
GLI3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GNA11
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
GPC3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
GREB1L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 3, OMIM# 617805
Tags
Green List (high evidence)
GRHPR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
GRIP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 List (high evidence)
HNF1B
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome, MIM#137920
Tags
Green List (high evidence)
HNF4A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026
  • MODY, type I, OMIM # 125850
Tags
Green List (high evidence)
HOGA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HOXA13
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HPRT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HPSE2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
HSD11B2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
HSD17B4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HYLS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IFT122
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IFT140
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IFT172
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IFT27
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IFT43
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
INF2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
INPP5E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
INVS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
IQCB1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
ITGA3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ITGA8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ITSN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Early childhood SSNS
Tags
Green List (high evidence)
JAG1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
KCNA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
KCNJ1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
KCNJ10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
KCNJ5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
KDM6A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
KIAA0556
1 review
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
  • new-gene-name
Green List (high evidence)
KIAA0586
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
KIAA0753
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
KIF14
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • ?Meckel syndrome 12, OMIM #616258
  • Microcephaly 20, primary, autosomal recessive, OMIM #617914
Tags
Green List (high evidence)
KIF7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
KL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
KLHL3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
KMT2D
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
LAGE3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LAMB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LCAT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Norum disease, MIM#245900
Tags
Green List (high evidence)
LIFR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Green List (high evidence)
LMX1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LRIG2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
LRP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
LZTFL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
MAGED2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
MAGI2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome, type 15, MIM# 617609
Tags
Green List (high evidence)
MAPKBP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
MKKS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
MKS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
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 List (high evidence)
MUC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
MUT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
MYH9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MYO1E
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
MYOCD
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cardiomyopathy
  • Megabladder
  • congenital heart disease
Tags
Green List (high evidence)
NADSYN1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • limb
  • cardiac
  • absent kidneys
  • vertebral
  • Multiple congenital abnormalities
Tags
Green List (high evidence)
NEK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
NEK8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
NIPBL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
NOTCH2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
NPHP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal-hepatic-pancreatic dysplasia 1, MIM# 208540
Tags
Green List (high evidence)
NPHP4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
NPHS1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NR3C1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
NR3C2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
NUP107
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
NUP85
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome, type 17, MIM#618176
Tags
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 List (high evidence)
OCRL
0 reviews
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lowe syndrome, MIM#309000
  • Dent disease 2, MIM#300555
Tags
Green List (high evidence)
OFD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
OSGEP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
PBX1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PCBD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
PDE3A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
PDSS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PHEX
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
  • Literature
Phenotypes
  • OMIM #307800
  • Hypophosphatemic rickets, X-linked dominant
Tags
Green List (high evidence)
PKD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
PKD2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
PKHD1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
PLCE1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
PODXL
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome
Tags
Green List (high evidence)
PRKCSH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
PTH1R
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
PTPRO
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
REN
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RMND1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
ROBO2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ROR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RPGRIP1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
RRM2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SALL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SALL4
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SALL4- related disorders
Tags
Green List (high evidence)
SARS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SBDS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Tags
Green List (high evidence)
SCARB2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SCNN1A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
SCNN1B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
SCNN1G
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
SDCCAG8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
SEC61A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Tags
Green List (high evidence)
SGPL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SIX1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 23, MIM# 605192
  • Branchiootic syndrome 3, MIM#608389
Tags
Green List (high evidence)
SIX5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC12A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC12A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green List (high evidence)
SLC22A12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC26A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis, calcium oxalate, MIM#167030
Tags
Green List (high evidence)
SLC2A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC2A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC34A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC34A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC3A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC4A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SLC4A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC5A2
0 reviews
 BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal glucosuria, MIM#233100
Tags
Green List (high evidence)
SLC7A7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SLC7A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
SLC9A3R1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287
Tags
Green List (high evidence)
SLIT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
SMARCAL1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 List (high evidence)
STRADA
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Polyhydramnios, megalencephaly, and symptomatic epilepsy
  • OMIM #611087
Tags
Green List (high evidence)
STX16
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
TBC1D1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
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 List (high evidence)
TBX18
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TCTN1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TCTN2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TCTN3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TFAP2A
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Branchiooculofacial syndrome, MIM# 113620
Tags
Green List (high evidence)
TMEM107
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TMEM138
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TMEM216
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TMEM231
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TMEM237
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TMEM67
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TNS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Nephrotic syndrome
Tags
Green List (high evidence)
TP53RK
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TPRKB
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway-Mowat syndrome 5, OMIM #617731
Tags
Green List (high evidence)
TRAF3IP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TRAP1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TRPC6
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
TRPM6
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesemia 1, intestinal, MIM#602014
Tags
Green List (high evidence)
TSC1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
TSC2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
TTC21B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 12, MIM#613820
Tags
Green List (high evidence)
TTC8
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
TXNDC15
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
UMOD
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Cystic v38.1.0
Tags
Green List (high evidence)
VDR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
Phenotypes
  • Rickets, vitamin D-resistant, type IIA, MIM# 277440
Tags
Green List (high evidence)
VHL
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • von Hippel-Lindau syndrome, MIM#193300
Tags
Green List (high evidence)
VIPAS39
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
VPS33B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green List (high evidence)
WDPCP
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
WDR19
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
WDR35
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
Green List (high evidence)
WDR60
1 review
 Unknown
Sources
  • Expert Review Green
  • KidGen_CilioNephronop v38.1.0
Tags
  • new-gene-name
Green List (high evidence)
WDR73
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
WNK1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Tags
Green List (high evidence)
WNK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_AldoHypertension v38.1.0
Phenotypes
  • SERKAL syndrome
  • OMIM #611812
Tags
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 List (high evidence)
WT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
XDH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
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
Amber List (moderate evidence)
ADAMTS13
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombotic thrombocytopenic purpura, familial, OMIM #274150
Tags
Amber List (moderate evidence)
ADCY10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Hypercalciuria, absorptive, susceptibility to, MIM#143870
Tags
Amber List (moderate evidence)
ANLN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Focal segmental glomerulosclerosis 8, OMIM #616032
Tags
Amber List (moderate evidence)
BBIP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 18, MIM#615995
Tags
Amber List (moderate evidence)
CD2AP
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Glomerulosclerosis, focal segmental, 3, OMIM #607832
Tags
Amber List (moderate evidence)
CEP120
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300
Tags
Amber List (moderate evidence)
COQ7
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Coenzyme Q10 deficiency, primary, 8, MIM#616733
Tags
Amber List (moderate evidence)
DCDC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 19, MIM# 616217
Tags
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 List (moderate evidence)
GLIS2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis 7, OMIM#611498
Tags
Amber List (moderate evidence)
IFT74
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 20 617119
Tags
Amber List (moderate evidence)
LAMA5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephrotic syndrome
Tags
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 List (moderate evidence)
SRGAP1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Amber List (moderate evidence)
THBD
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #612926
  • {Hemolytic uremic syndrome, atypical, susceptibility to, 6}
Tags
Red List (low evidence)
APOL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551
Tags
Red List (low evidence)
ARHGAP24
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • FSGS
Tags
Red List (low evidence)
ATXN10
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis
Tags
Red List (low evidence)
B9D1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Meckel syndrome 9, OMIM #614209
  • Joubert syndrome 27, OMIM #617120
Tags
Red List (low evidence)
BICC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • {Renal dysplasia, cystic, susceptibility to}
  • OMIM #601331
Tags
Red List (low evidence)
BMP7
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Red List (low evidence)
C2CD3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XIV, MIM# 615948
Tags
Red List (low evidence)
C5orf42
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome VI, MIM# 277170
  • Joubert syndrome 17, MIM#614615
Tags
Red List (low evidence)
CBWD1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • CAKUT
Tags
Red List (low evidence)
CCDC28B
0 reviews
 Other
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, MIM#209900
Tags
Red List (low evidence)
CDC5L
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Red List (low evidence)
CDX2
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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 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 List (low evidence)
COQ9
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • Coenzyme Q10 deficiency, primary, 5
  • OMIM #614654
Tags
Red List (low evidence)
DACT1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Townes-Brocks syndrome 2, MIM#617466
Tags
Red List (low evidence)
EHHADH
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • KidGen_Tubulopathies v38.1.0
Phenotypes
  • OMIM#615605
  • Fanconi renotubular syndrome 3
Tags
Red List (low evidence)
EVC
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Ellis-van Creveld syndrome, MIM#225500
Tags
Red List (low evidence)
EVC2
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Ellis van Creveld syndrome
Tags
Red List (low evidence)
EZH2
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
FGF10
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #149730
  • LADD syndrome
Tags
Red List (low evidence)
FGF8
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #612702
  • Hypogonadotropic hypogonadism 6 with or without anosmia
Tags
Red List (low evidence)
FGFR1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
FGFR2
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
FGFR3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • LADD syndrome, MIM#149730
Tags
Red List (low evidence)
FOXC1
0 reviews
 Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Axenfeld-Rieger syndrome, type 3, MIM#602482
Tags
Red List (low evidence)
FOXC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #153400
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus
Tags
Red List (low evidence)
HOXA4
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
HOXB6
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
ICK
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Endocrine-cerebroosteodysplasia, MIM#612651
Tags
Red List (low evidence)
IFT57
0 reviews
 Unknown
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Orofaciodigital syndrome XVIII, MIM#617927
Tags
Red List (low evidence)
IFT81
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 19 with or without polydactyly
  • OMIM #617895
Tags
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 List (low evidence)
KANK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome
Tags
Red List (low evidence)
KANK4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Tags
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 List (low evidence)
NUP160
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nephrotic syndrome, type 19, MIM#618178
Tags
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 List (low evidence)
NUP37
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome
Tags
Red List (low evidence)
PDE6D
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 22, OMIM #615665
Tags
Red List (low evidence)
POC1B
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Cone-rod dystrophy 20, MIM#615973
Tags
Red List (low evidence)
SCLT1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Senior-Loken syndrome
  • Orofaciodigital syndrome type IX
Tags
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 List (low evidence)
SEMA3A
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
SIX2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Red List (low evidence)
SLC41A1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis
  • no OMIM number
Tags
Red List (low evidence)
SOX17
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • OMIM #613674
  • Vesicoureteral reflux 3
Tags
Red List (low evidence)
TNXB
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Vesicoureteral reflux 8, MIM# 615963
Tags
Red List (low evidence)
TRIM32
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988
Tags
Red List (low evidence)
UPK3A
0 reviews
 Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
VTN
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Atypical haemolytic uraemic syndrome
Tags
Red List (low evidence)
WDR34
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633
Tags
  • new-gene-name
Red List (low evidence)
XPNPEP3
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Nephronophthisis-like nephropathy 1, OMIM #613159
Tags
Red List (low evidence)
XPO5
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Nephrotic syndrome
Tags
Red List (low evidence)
ZNF423
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
Phenotypes
  • Joubert syndrome 19, OMIM# 614844
Tags

Downloads

Download lists

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

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