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  2. Renal Tubulointerstitial Disease

Renal Tubulointerstitial Disease (Version 1.3)

Level 2: Renal and urinary tract disorders

Relevant disorders: Abnormal tubulointerstitial morphology, HP:0001969
Panel types: Victorian Clinical Genetics Services, KidGen, Royal Melbourne Hospital, Rare 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

2 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

  • Michelle Torres (Victorian Clinical Genetics Services)

7 Entities

7 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
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 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 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 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 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 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 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

Major version comments

  • 2021-01-16 11:32 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

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

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