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 1.8

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, neurohypophyseal, 125700

Red AVP in Monogenic nephrogenic diabetes insipidus


Version 1.8

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 1.59

review Not set
Sources
  • Expert Review Removed
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, neurohypophyseal, 125700

Red AVP in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.24
Signed off v.3.2 on 13 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review Not set
    Sources
    • Victorian Clinical Genetics Services

    Amber AVP in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Exper review amber
    • Literature
    Phenotypes
    • MIM 125700
    • Congenital or cystic renal disease
    • Nephropathy of unknown origin
    • Diabetes insipidus, neurohypophyseal