Monogenic nephrogenic diabetes insipidus
Gene: AVP
AVP (arginine vasopressin)
EnsemblGeneIds (GRCh38): ENSG00000101200
EnsemblGeneIds (GRCh37): ENSG00000101200
OMIM: 192340, Gene2Phenotype
AVP is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000101200
EnsemblGeneIds (GRCh37): ENSG00000101200
OMIM: 192340, Gene2Phenotype
AVP is in 5 panels
1 review
emma baple (Genomics England Curator)
Comment when marking as ready: Not associated with nephrogenic diabetes insipidusCreated: 9 May 2017, 8:49 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Diabetes insipidus,neurohypophyseal,125700
- OMIM
- 192340
- Clinvar variants
- Variants in AVP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
9 May 2017, Gel status: 1
panel promoted to version 1
emma baple (Genomics England Curator)Ready for use in tiering
9 May 2017, Gel status: 1
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jun 2016, Gel status: 1
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Model of inheritance for gene AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
13 Jun 2016, Gel status: 1
Set Phenotypes
Olivia Niblock (Genomics England Curator)Phenotypes for gene AVP were set to Diabetes insipidus,neurohypophyseal,125700
13 Jun 2016, Gel status: 1
Added New Source
Olivia Niblock (Genomics England Curator)AVP was added to monogenic nephrogenic diabetes insipiduspanel. Sources: Radboud University Medical Center, Nijmegen
13 Jun 2016, Gel status: 0
Created
Olivia Niblock (Genomics England Curator)AVP was created by oniblock