AVPR2

arginine vasopressin receptor 2
OMIM: 300538, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list AVPR2 in Multi-organ autoimmune diabetes

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Nephrogenic Diabetes Insipidus

Red AVPR2 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 AVPR2 in Monogenic nephrogenic diabetes insipidus


Version 1.8

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic, X-Linked
  • nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)
Tags
  • treatable

No list AVPR2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

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

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 304800
  • Nephrogenic syndrome of inappropriate antidiuresis, 300539
  • Nephrogenic Diabetes Insipidus
  • Diabetes Insipidus, Nephrogenic, X-Linked

Green AVPR2 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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Diabetes insipidus, nephrogenic, 304800
    • Nephrogenic Diabetes Insipidus
    • Diabetes Insipidus, Nephrogenic, X-Linked
    • nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)
    • Nephrogenic syndrome of inappropriate antidiuresis, 300539
    Tags
    • treatable

    Red AVPR2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.500
    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 X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red

    Green AVPR2 in Severe Paediatric Disorders


    Version 1.12

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nephrogenic syndrome of inappropriate antidiuresis, 300539
    • Diabetes insipidus, nephrogenic, 304800