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  2. Renal Tubular Dysgenesis
This Panel is marked as Retired

Renal Tubular Dysgenesis (Version 1.1)

Level 2: Renal and urinary tract disorders

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS, and is a component of the CAKUT SuperPanel and the Kidneyome SuperPanel.

Renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects.
Panel Activity

1 reviewer

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

4 Entities

4 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
4 Entitiess
Green List (high evidence)
ACE
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green List (high evidence)
AGT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green List (high evidence)
AGTR1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags
Green List (high evidence)
REN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal tubular dysgenesis, MIM# 267430
Tags

Major version comments

  • 2021-10-28 21:53 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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