AVPR2

arginine vasopressin receptor 2
OMIM: 300538, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green AVPR2 in Mendeliome Version 1.1902	review	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
Red AVPR2 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Genetic Health Queensland Phenotypes Diabetes insipidus, nephrogenic, MIM#304800
Green AVPR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Diabetes insipidus, nephrogenic
Green AVPR2 in Diabetes Insipidus Level 2: Endocrine disorders Version 1.3	review	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
Green AVPR2 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Diabetes insipidus, nephrogenic, MIM#304800 Tags SV/CNV treatable clinical trial endocrine
Green AVPR2 in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Expert list Phenotypes Nephrogenic syndrome of inappropriate antidiuresis 300539 Diabetes insipidus, nephrogenic 304800