AQP2

aquaporin 2
OMIM: 107777, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

No list AQP2 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus

Red AQP2 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.1

review Not set
Sources
  • Literature

Green AQP2 in Monogenic nephrogenic diabetes insipidus


Version 1.8

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus
Tags
  • treatable

No list AQP2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus

Green AQP2 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.24
Signed off v.2.23 on 16 Oct 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Diabetes insipidus, nephrogenic, 125800
    • Nephrogenic diabetes insipidus
    Tags
    • treatable