AQP2

aquaporin 2
OMIM: 107777, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green AQP2 in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes insipidus, nephrogenic, MIM#125800
Tags
  • treatable
  • clinical trial

Green AQP2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800 (3)

Green AQP2 in Diabetes Insipidus


Level 2: Endocrine disorders
Version 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, nephrogenic MIM#125800
Tags
  • treatable
  • clinical trial

Green AQP2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800 (3)

Green AQP2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Diabetes insipidus, nephrogenic, 2, MIM#125800
Tags
  • treatable
  • clinical trial
  • endocrine

Green AQP2 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diabetes insipidus, nephrogenic MIM#125800

    Green AQP2 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Diabetes insipidus, nephrogenic, 125800 (3)