AVP

arginine vasopressin
OMIM: 192340, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green AVP in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
  • treatable
  • clinical trial

Red AVP in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Diabetes insipidus, neurohypophyseal, MIM#125700

Green AVP in Diabetes Insipidus


Level 2: Endocrine disorders
Version 1.3

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
  • treatable
  • clinical trial

Green AVP in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
Tags
  • treatable
  • clinical trial
  • endocrine

Green AVP 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Diabetes insipidus, neurohypophyseal MIM#125700