Multi-organ autoimmune diabetes
Gene: AVPR2

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed due to expert review.
Created: 22 Jul 2016, 3:03 p.m.

Created: 22 Jul 2016, 3:03 p.m.

Panel version: 0.23

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 p.m.

Created: 8 Dec 2015, 2:32 p.m.

Panel version: 0

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
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Diabetes insipidus, nephrogenic, 304800
Nephrogenic syndrome of inappropriate antidiuresis, 300539
Nephrogenic Diabetes Insipidus

Tags

curated_removed

OMIM

300538

Clinvar variants

Variants in AVPR2

Penetrance

Complete

Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AVPR2.

25 Jul 2016, Gel status: 0