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Mendeliome

Gene: AVPR2

Green List (high evidence)

AVPR2 (arginine vasopressin receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000126895
EnsemblGeneIds (GRCh37): ENSG00000126895
OMIM: 300538, Gene2Phenotype
AVPR2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.
Created: 22 Sep 2022, 12:32 a.m. | Last Modified: 22 Sep 2022, 12:32 a.m.
Panel Version: 1.338

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

Phenotypes
Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene association established with functional expression studies (PubMed: 15872203)
Created: 10 Jan 2020, 2:43 a.m. | Last Modified: 10 Jan 2020, 2:43 a.m.
Panel Version: 0.749

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

Phenotypes
Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Diabetes insipidus, nephrogenic 304800
  • Nephrogenic syndrome of inappropriate antidiuresis 300539
Tags
treatable clinical trial
OMIM
300538
Clinvar variants
Variants in AVPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag clinical trial tag was added to gene: AVPR2.

22 Sep 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AVPR2.

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: avpr2 has been classified as Green List (High Evidence).

10 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic 304800; Nephrogenic syndrome of inappropriate antidiuresis 300539

10 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AVPR2 were set to

10 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AVPR2 was added gene: AVPR2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AVPR2 was set to Unknown