1. Panels
  2. Renal Tubulopathies and related disorders
  3. AVP
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Renal Tubulopathies and related disorders

Gene: AVP

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

1 review

Ella Wilkins (Victorian Clinical Genetics Services)

Green List (high evidence)

Included due to phenotypic overlap with nephrogenic DI.
Sources: Expert list
Created: 17 Feb 2023, 3:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diabetes insipidus, neurohypophyseal

Created: 17 Feb 2023, 3:49 a.m.

Panel version: 1.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, neurohypophyseal MIM#125700
OMIM
192340
Clinvar variants
Variants in AVP
Penetrance
None
Panels with this gene

History Filter Activity

17 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Feb 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AVP were changed from Diabetes insipidus, neurohypophyseal to Diabetes insipidus, neurohypophyseal MIM#125700

17 Feb 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Feb 2023, Gel status: 0

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

Ella Wilkins (Victorian Clinical Genetics Services)

gene: AVP was added gene: AVP was added to Renal Tubulopathies and related disorders. Sources: Expert list Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AVP were set to Diabetes insipidus, neurohypophyseal Review for gene: AVP was set to GREEN