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Monogenic nephrogenic diabetes insipidus

Gene: AVPR2

Green List (high evidence)

AVPR2 (arginine vasopressin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000126895
EnsemblGeneIds (GRCh37): ENSG00000126895
OMIM: 300538, Gene2Phenotype
AVPR2 is in 8 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)

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

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
OMIM
300538
Clinvar variants
Variants in AVPR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for AVPR2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

23 Mar 2017, Gel status: 3

Set publications

Olivia Niblock (Genomics England Curator)

Publications for AVPR2 were set to 18726898; 27565746; 27117808; 26974133; 26828532

23 Mar 2017, Gel status: 3

Set publications

Olivia Niblock (Genomics England Curator)

Publications for AVPR2 were set to 18726898

13 Jun 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: UKGTN

13 Jun 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

13 Jun 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

AVPR2 was created by oniblock

13 Jun 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

AVPR2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Radboud University Medical Center, Nijmegen