Genomics England
GMS Panels
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Genes and Entities

Unexplained young onset end-stage renal disease (Version: )

Relevant disorders: Unexplained paediatric onset end-stage renal disease, R257
This panel contains these 11 panels:
  • Unexplained young onset end-stage renal disease - additional genes
  • Proteinuric renal disease
  • Nephrocalcinosis or nephrolithiasis
  • Renal ciliopathies
  • Cystic kidney disease
  • Tubulointerstitial kidney disease
  • Renal tubulopathies
  • Hereditary systemic amyloidosis
  • Atypical haemolytic uraemic syndrome
  • Membranoproliferative glomerulonephritis including C3 glomerulopathy
  • Haematuria
Signed off date: 30 Oct 2024
Panel types: GMS Rare Disease Virtual, Super Panel, GMS Rare Disease, GMS signed-off
See this panel in PanelApp
260 unique green entities
Entity ratingEntityMode of inheritanceMode of pathogenicityTags
Green
ACE
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ACTG2
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ACTN4
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
AGT
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGTR1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AGXT
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AHI1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ALG5
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ALG8
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ALG9
Cystic kidney disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
ALMS1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AMN
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANKS6
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANKS6
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANKS6
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ANOS1
Unexplained young onset end-stage renal disease - additional genes
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
AP2S1
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
APOA1
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
APOA2
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
APOC2
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Amissense
Green
APOE
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
APRT
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AQP2
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Atreatable
Green
ARHGDIA
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL13B
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARL6
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ARMC9
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP1A1
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
ATP6V0A4
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V0A4
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B1
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ATP6V1B1
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
AVPR2
Renal tubulopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)Loss-of-function variants DO NOT cause this phenotypetreatable, Skewed X-inactivation
Green
B9D2
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS10
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS12
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS2
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS4
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS5
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS7
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BBS9
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BNC2
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
BSND
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
BSND
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
C3
Atypical haemolytic uraemic syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
C3
Unexplained young onset end-stage renal disease - additional genes
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
C3
Membranoproliferative glomerulonephritis including C3 glomerulopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypeN/A
Green
C5orf42
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
CA2
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CA2
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CASR
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CASR
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalOtherN/A
Green
CC2D2A
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CD151
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CD46
Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CENPF
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP104
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP164
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP164
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP164
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP290
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP41
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CEP83
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFB
Atypical haemolytic uraemic syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
CFB
Membranoproliferative glomerulonephritis including C3 glomerulopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypefor-review, to_be_confirmed_NHSE
Green
CFH
Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CFH
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CFHR1
Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CFHR1
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acurrently-ngs-unreportable
Green
CFHR2
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Acurrently-ngs-unreportable, gene-checked
Green
CFHR3
Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CFHR5
Membranoproliferative glomerulonephritis including C3 glomerulopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLoss-of-function variants DO NOT cause this phenotypecurrently-ngs-unreportable
Green
CFI
Atypical haemolytic uraemic syndrome
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
CFI
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/Afor-review, to_be_confirmed_NHSE
Green
CHD7
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CHRM3
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLCN5
Nephrocalcinosis or nephrolithiasis
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
CLCN5
Cystic kidney disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CLCN5
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
CLCNKB
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
CLCNKB
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/Amonogenic-polygenic, Q3_23_MOI
Green
CLDN10
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN16
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN16
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN19
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CLDN19
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CNNM2
Renal tubulopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
COL4A1
Haematuria
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A1
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
COL4A3
Haematuria
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
COL4A3
Proteinuric renal disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
COL4A4
Haematuria
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalOtherN/A
Green
COL4A4
Proteinuric renal disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
COL4A5
Haematuria
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)OtherN/A
Green
COL4A5
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
COQ2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ6
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
COQ8B
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CRB2
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CSPP1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CTNS
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUBN
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CUL3
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
CYP24A1
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
CYP24A1
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DAAM2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DDX59
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DGKE
Atypical haemolytic uraemic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DGKE
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DGKE
Membranoproliferative glomerulonephritis including C3 glomerulopathy
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DHCR7
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLC1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DLG5
Renal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
DNAJB11
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DNAJB11
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DSTYK
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
DYNC2H1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
DZIP1L
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
EYA1
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FAH
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAM20A
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAN1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FAT1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
FGA
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FLCN
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FN1
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
FRAS1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
FREM2
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GANAB
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GATA3
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GATM
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
GATM
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the commentsN/A
Green
GLA
Cystic kidney disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLA
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
GLI3
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GNA11
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
GON7
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/Afounder-effect
Green
GRHPR
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GRIP1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
GSN
Hereditary systemic amyloidosis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
HAAO
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HNF1B
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNF1B
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNF1B
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HNF1B
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNF4A
Nephrocalcinosis or nephrolithiasis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
HNF4A
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
HOGA1
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HPRT1
Nephrocalcinosis or nephrolithiasis
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
HPSE2
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
HYLS1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ICK
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name, watchlist
Green
IFT122
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT140
Cystic kidney disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IFT140
Renal ciliopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
IFT172
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT27
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IFT43
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INF2
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
INPP5E
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INVS
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INVS
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
INVS
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
IQCB1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37401-Loss
Unexplained young onset end-stage renal disease - additional genes
11p13 (WAGR syndrome) region Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37405-Loss
Cystic kidney disease
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37405-Loss
Renal ciliopathies
2q13 recurrent region (includes NPHP1) Loss
region
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ISCA-37432-Loss
Cystic kidney disease
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ISCA-37432-Loss
Renal ciliopathies
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
region
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
ITGA3
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITGA8
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
ITSN1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
KCNJ1
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ1
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ10
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KCNJ16
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA0586
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIAA0753
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KIF7
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
KLHL3
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
KYNU
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LAGE3
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
LAMB2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LCAT
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LMX1B
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
LRIG2
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
LYZ
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
LZTFL1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAGED2
Renal tubulopathies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
MAGI2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAPKBP1
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAPKBP1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MAPKBP1
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKKS
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MKS1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalOtherN/A
Green
MMACHC
Atypical haemolytic uraemic syndrome
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MOCOS
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
MT-TF
Tubulointerstitial kidney disease
MITOCHONDRIALN/Agene-checked, locus-type-rna-transfer
Green
MUC1
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
MYH9
Haematuria
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYH9
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
MYO1E
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEK8
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NEK8
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
NOS1AP
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP1
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP1
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP3
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP3
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP3
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP4
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP4
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHP4
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHS1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NPHS2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NR3C2
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
NUP107
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP133
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP85
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
NUP93
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
OCRL
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
OCRL
Nephrocalcinosis or nephrolithiasis
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesN/AN/A
Green
OFD1
Renal ciliopathies
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
OSGEP
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PAX2
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PAX2
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PBX1
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PDSS2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PHEX
Nephrocalcinosis or nephrolithiasis
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/AN/A
Green
PKD1
Cystic kidney disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
PKD1
Renal ciliopathies
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
PKD2
Renal ciliopathies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
PKD2
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
PKHD1
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PKHD1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PLCE1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PMM2
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
PODXL
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/Agene-checked
Green
PRDM15
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
PRKCSH
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
REN
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
REN
Tubulointerstitial kidney disease
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
RET
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
RMND1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RPGRIP1L
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
RRAGD
Nephrocalcinosis or nephrolithiasis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedLoss-of-function variants DO NOT cause this phenotypeN/A
Green
RRAGD
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
RRM2B
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SALL1
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SARS2
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCARB2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCNN1A
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SCNN1B
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SCNN1G
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SDCCAG8
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SEC61A1
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SEC61A1
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SEC63
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SGPL1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SIX5
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
SLC12A1
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
SLC12A1
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
SLC12A3
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/Amonogenic-polygenic
Green
SLC22A12
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC22A12
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A2
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC2A9
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC2A9
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC34A1
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC34A3
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC3A1
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SLC4A1
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC4A1
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC4A4
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
SLC5A2
Renal tubulopathies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalN/AN/A
Green
SLC7A9
Nephrocalcinosis or nephrolithiasis
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomalN/AN/A
Green
SMARCAL1
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
STRADA
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TBC1D8B
Proteinuric renal disease
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)N/Agene-checked
Green
TBX18
Unexplained young onset end-stage renal disease - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TCTN1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN2
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TCTN3
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM107
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM138
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM216
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM231
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM237
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM67
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM67
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TMEM67
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TNS2
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TP53RK
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TPRKB
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAF3IP1
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TRAP1
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
TRIM8
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
TRPC6
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TRPM6
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TSC1
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
TSC2
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
TTC21B
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTC21B
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
TTC21B
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/Awatchlist_moi
Green
TTC8
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TTR
Hereditary systemic amyloidosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/Atreatable
Green
TULP3
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
TXNDC15
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Agene-checked
Green
UMOD
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
UMOD
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
UMOD
Tubulointerstitial kidney disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOtherN/A
Green
VHL
Cystic kidney disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownN/AN/A
Green
VIPAS39
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VIPAS39
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33B
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
VPS33B
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDPCP
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR19
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR19
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR19
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR35
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR60
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/Anew-gene-name
Green
WDR72
Unexplained young onset end-stage renal disease - additional genes
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WDR73
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
WNK4
Renal tubulopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
WT1
Proteinuric renal disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedN/AN/A
Green
XDH
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPNPEP3
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPNPEP3
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
XPNPEP3
Cystic kidney disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A
Green
YRDC
Proteinuric renal disease
BIALLELIC, autosomal or pseudoautosomalN/AN/A