Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: AVPR2

No list

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

2 reviews

Sian Ellard (University of Exeter Medical School)

mutations cause diabetes insipidus not diabetes mellitus
Created: 18 Oct 2015, 8:07 a.m.

Ellen McDonagh (Genomics England Curator)

Remove this gene from the panel.
Created: 19 Oct 2015, 8:13 a.m.
Reviewers please note that this gene is associated with Diabetes insipidus phenotypes. Should this be included on the Diabetes with additional phenotypes suggestive of a monogenic aetiology panel?
Created: 22 Jul 2015, 3:18 p.m.

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

History Filter Activity

25 Jul 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

29 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

29 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AVPR2 was changed to X-LINKED

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AVPR2 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen