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Analysis

Kidney gene reference

Paste gene symbols from a report or from project labels. GenoM checks them against a short list of genes with published kidney phenotypes.

A symbol on this list is not the cause of a person’s kidney disease. A symbol missing from the list is not a clearance. This page does not read a genome, classify a variant, or replace a nephrologist or a clinical genetics laboratory.

Symbols to check

Results appear as you type.

Reference list

25 genes. Not a diagnostic panel and not a complete survey of kidney genetics.

  • PKD1 Cystic · Autosomal dominantAutosomal dominant polycystic kidney disease. PKD1 accounts for most cases.
  • PKD2 Cystic · Autosomal dominantAutosomal dominant polycystic kidney disease. Disease from PKD2 is often later than disease from PKD1.
  • PKHD1 Cystic · Autosomal recessiveAutosomal recessive polycystic kidney disease.
  • NPHP1 Cystic · Autosomal recessiveNephronophthisis. A homozygous NPHP1 deletion is a frequent finding in juvenile nephronophthisis.
  • CEP290 Cystic · Autosomal recessiveNephronophthisis and other ciliopathies.
  • OFD1 Cystic · X-linkedOral-facial-digital syndrome type I, which can include polycystic kidney disease.
  • COL4A5 Basement membrane · X-linkedAlport syndrome.
  • COL4A3 Basement membrane · Autosomal recessive or autosomal dominantAlport syndrome. Biallelic variants cause recessive disease. Heterozygous variants are also reported with dominant Alport syndrome or familial hematuria.
  • COL4A4 Basement membrane · Autosomal recessive or autosomal dominantAlport syndrome. The same recessive and dominant patterns described for COL4A3 apply.
  • NPHS1 Nephrotic · Autosomal recessiveCongenital nephrotic syndrome, Finnish type.
  • NPHS2 Nephrotic · Autosomal recessiveSteroid-resistant nephrotic syndrome.
  • WT1 Nephrotic · Autosomal dominantDenys–Drash syndrome, Frasier syndrome, and diffuse mesangial sclerosis. WT1 is also a Wilms tumor predisposition gene.
  • UMOD Tubulointerstitial · Autosomal dominantAutosomal dominant tubulointerstitial kidney disease (ADTKD-UMOD).
  • MUC1 Tubulointerstitial · Autosomal dominantAutosomal dominant tubulointerstitial kidney disease (ADTKD-MUC1).
  • REN Tubulointerstitial · Autosomal dominantAutosomal dominant tubulointerstitial kidney disease (ADTKD-REN).
  • HNF1B Developmental · Autosomal dominantRenal cysts and diabetes syndrome (RCAD), including 17q12 deletions that remove HNF1B.
  • PAX2 Developmental · Autosomal dominantPapillorenal syndrome, also called renal coloboma syndrome.
  • EYA1 Developmental · Autosomal dominantBranchio-oto-renal syndrome.
  • SALL1 Developmental · Autosomal dominantTownes–Brocks syndrome, which can include kidney malformations.
  • CLCN5 Tubular · X-linkedDent disease type 1.
  • OCRL Tubular · X-linkedLowe syndrome and Dent disease type 2.
  • CTNS Tubular · Autosomal recessiveNephropathic cystinosis.
  • AGXT Tubular · Autosomal recessivePrimary hyperoxaluria type 1.
  • CFH Complement · Autosomal dominant or autosomal recessiveAtypical hemolytic uremic syndrome and C3 glomerulopathy.
  • APOL1 Risk locus · Risk alleles, not a single-gene diagnosisThe G1 and G2 alleles raise the risk of several kidney diseases, particularly in people with recent West African ancestry.