AVP

arginine vasopressin
OMIM: 192340, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
No list AVP in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.12

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, neurohypophyseal, 125700
Tags
  • curated_removed
Red AVP in Monogenic nephrogenic diabetes insipidus


Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus,neurohypophyseal,125700
No list AVP in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.68

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, neurohypophyseal, 125700
Tags
  • curated_removed
Red AVP in Intellectual disability


Level 2: Developmental disorders
Version 9.345
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Not set
    Sources
    • Victorian Clinical Genetics Services
    Green AVP in Hereditary isolated diabetes insipidus


    Level 2: Endocrinology
    Version 2.2
    Latest signed off version: v2.0 (20 Dec 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green