PanelApp
  1. Panels
  2. Renal Tubulointerstitial Disease
Description
This panel was developed and is maintained by the KidGen Collaborative. It is a consensus panel used by VCGS and RMH.
Panel Activity

3 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Michelle Torres (Victorian Clinical Genetics Services)

8 Entities

8 reviewed, 8 green

List Entity Reviews Mode of inheritance Details
8 Entitiess
Green Green List (high evidence)
DNAJB11
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061
Tags
Green Green List (high evidence)
FAN1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Interstitial nephritis, karyomegalic, MIM# 614817
Tags
Green Green List (high evidence)
HNF1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Diabetes mellitus, noninsulin-dependent 125853 AD
  • Renal cysts and diabetes syndrome 137920 AD
  • {Renal cell carcinoma} 144700
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • JAG1-related autosomal dominant tubulointerstitial kidney disease
  • Alagille syndrome, MONDO:0007318
Tags
Green Green List (high evidence)
MUC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Medullary cystic kidney disease 1, MIM# 174000
Tags
Green Green List (high evidence)
REN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Autosomal dominant tubulointerstitial disease
Tags
Green Green List (high evidence)
SEC61A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056
Tags
Green Green List (high evidence)
UMOD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_Tubulointerstitial v38.1.0
Phenotypes
  • Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD)
  • Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886
  • Medullary cystic kidney disease 2, MIM# 603860
Tags

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