Newborns main panel
Gene: AVPR2

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

18AVPR2pathogenic variants resulting in partial NDI have been reported
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.

Panel Version: 0.133

MOI reviewed by clinical team. Mafalda Gomes comment: Heterozygotes for X-linked NDI. Females who are heterozygous for an AVPR2 pathogenic variant may have no symptoms or a variable degree of polyuria and polydipsia, or they may be as severely affected as males. Skewed X inactivation is believed to cause symptoms in some females heterozygous for AVPR2 pathogenic variants, although these symptoms do not necessarily correlate with the X inactivation pattern in leukocytes [Namatame-Ohta et al 2018].
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Diabetes insipidus, nephrogenic, 1

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green

Phenotypes

Diabetes insipidus, nephrogenic, 1

OMIM

300538

Clinvar variants

Variants in AVPR2

Penetrance

None

Panels with this gene