Newborns additional phenotypes panel 1
Gene: AVP

AVP (arginine vasopressin)
EnsemblGeneIds (GRCh38): ENSG00000101200
EnsemblGeneIds (GRCh37): ENSG00000101200
OMIM: 192340, Gene2Phenotype
AVP is in 5 panels

1 review

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Diabetes insipidus, neurohypophyseal are included.
Created: 8 Jan 2026, 11:38 a.m. | Last Modified: 8 Jan 2026, 11:38 a.m.

Panel Version: 0.110

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 8 Jan 2026, 11:38 a.m. | Last Modified: 8 Jan 2026, 11:38 a.m.

Panel Version: 0.110

The AVP gene typically follows dominant inheritance but rare recessive cases have been reported. A Palestinian founder variant (c.77C>T, p.(Pro26Leu)) was identified as homozygous in at least 6 individuals from 2 families with diabetes insipidus (PMID: 10369876;19897608). Parents were consanguineous, asymptomatic heterozygous carriers in all cases. Additionally, a homozygous deletion affecting AVP gene was found in a case with early-onset neurohypophyseal diabetes insipidus (PMID: 22168581) supporting inclusion of AR variants for this gene.
Sources: Expert Review
Created: 8 Jan 2026, 11:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, neurohypophyseal, autosomal recessive

Publications

Created: 8 Jan 2026, 11:04 a.m.

Panel version: 0.110

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Diabetes insipidus, neurohypophyseal, autosomal recessive

Tags

special_consideration

OMIM

192340

Clinvar variants

Variants in AVP

Penetrance

None

Publications

Panels with this gene

History Filter Activity

8 Jan 2026, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: avp has been classified as Green List (High Evidence).

8 Jan 2026, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: AVP was added gene: AVP was added to Newborns additional phenotypes panel 1. Sources: Expert Review special_consideration tags were added to gene: AVP. Mode of inheritance for gene: AVP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AVP were set to 10369876; 19897608; 22168581 Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal, autosomal recessive

Newborns additional phenotypes panel 1 Gene: AVP