AVPR2

arginine vasopressin receptor 2
OMIM: 300538, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
No list AVPR2 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.12	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 Removed Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diabetes insipidus, nephrogenic, 304800 Nephrogenic syndrome of inappropriate antidiuresis, 300539 Nephrogenic Diabetes Insipidus Tags curated_removed
Red AVPR2 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.4	review	Not set	Sources Literature
Green AVPR2 in Monogenic nephrogenic diabetes insipidus Version 1.12	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 UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diabetes insipidus, nephrogenic, 304800 Nephrogenic Diabetes Insipidus Diabetes Insipidus, Nephrogenic, X-Linked nephrogenic diabetes insipidus (commonest cause, affected females also reported often with a milder and later presentation) Tags treatable Skewed X-inactivation
No list AVPR2 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.69	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 Removed UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Diabetes insipidus, nephrogenic, 304800 Nephrogenic syndrome of inappropriate antidiuresis, 300539 Nephrogenic Diabetes Insipidus Diabetes Insipidus, Nephrogenic, X-Linked Tags curated_removed
Green AVPR2 in Renal tubulopathies Level 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources NHS GMS Expert Review Green Other Phenotypes Diabetes insipidus, nephrogenic, OMIM:304800 Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 Tags treatable Skewed X-inactivation
Red AVPR2 in Intellectual disability Level 2: Developmental disorders Version 9.375 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Red
Green AVPR2 in Hereditary isolated diabetes insipidus Level 2: Endocrinology Version 2.2 Latest signed off version: v2.0 (20 Dec 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green