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  3. AVPR2
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Diabetes Insipidus

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.

Clinical trials.
Created: 22 Sep 2022, 1:03 a.m. | Last Modified: 22 Sep 2022, 1:03 a.m.
Panel Version: 1.1

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

Phenotypes
Diabetes insipidus, nephrogenic MIM#304800

Created: 22 Sep 2022, 1:03 a.m.
Last Modified: 22 Sep 2022, 1:03 a.m.
Panel version: 1.1

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established cause of nephrogenic diabetes insipidus (most common cause). ~10% of disease-causing variants are large deletions. females are unlikely to be affected, but heterozygous females can exhibit variable degrees of polyuria and polydipsia because of skewed X chromosome inactivation
Sources: Expert list
Created: 2 Dec 2020, 12:30 a.m.

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

Phenotypes
Diabetes insipidus, nephrogenic MIM#304800

Publications

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

Created: 2 Dec 2020, 12:30 a.m.

Panel version: 0.1

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, nephrogenic MIM#304800
Tags
SV/CNV 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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AVPR2. Tag clinical trial tag was added to gene: AVPR2.

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

2 Dec 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AVPR2 was added gene: AVPR2 was added to Diabetes Insipidus. Sources: Expert list SV/CNV tags were added to gene: AVPR2. Mode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AVPR2 were set to 1356229; 20301356; 27156763 Phenotypes for gene: AVPR2 were set to Diabetes insipidus, nephrogenic MIM#304800 Review for gene: AVPR2 was set to GREEN gene: AVPR2 was marked as current diagnostic