Monogenic nephrogenic diabetes insipidus
Gene: AVPR2

AVPR2 (arginine vasopressin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000126895
EnsemblGeneIds (GRCh37): ENSG00000126895
OMIM: 300538, Gene2Phenotype
AVPR2 is in 7 panels

2 reviews

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation)

Created: 9 May 2017, 8:57 p.m.

Panel version: 0.12

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Added the 'treatable' tag due to information available on Orphanet regarding Nephrogenic diabetes insipidus: "Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants." summary reviewed by : Dr Patrick NIAUDET - Last update: February 2007 (http://www.orpha.net)
Created: 10 May 2017, 7:34 a.m.

Gene should be green - >3 unrelated cases/families reported. PMID: 9329382 indicates that heterozygous females may be affected, depending on X-linked skewing.
Created: 26 Apr 2017, 9:47 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Diabetes insipidus, nephrogenic 304800

Created: 26 Apr 2017, 9:58 a.m.

Panel version: 0.11

Details

Mode of Inheritance

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 Skewed X-inactivation

OMIM

300538

Clinvar variants

Variants in AVPR2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

14 Oct 2021, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Skewed X-inactivation tag was added to gene: AVPR2.

10 May 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for AVPR2 were set to 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)

10 May 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for AVPR2 was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

9 May 2017, Gel status: 4

panel promoted to version 1

emma baple (Genomics England Curator)

Ready for use in tiering

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Apr 2017, Gel status: 3