Groopman et al 2019 - Genes with diagnostic variants

Gene: AVP

Amber List (moderate evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: AVP; Inheritance: AD; Clinical diagnosis: Congenital or cystic renal disease; Nephropathy of unknown origin; Genetic diagnosis: Diabetes insipidus, neurohypophyseal; OMIM phenotype MIM no.:125700; Number of cases:2
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Exper review amber
  • Literature
Phenotypes
  • MIM 125700
  • Congenital or cystic renal disease
  • Nephropathy of unknown origin
  • Diabetes insipidus, neurohypophyseal
OMIM
192340
Clinvar variants
Variants in AVP
Penetrance
None
Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 2

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Amber was added to AVP. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: AVP was added gene: AVP was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: AVP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AVP were set to MIM 125700; Congenital or cystic renal disease; Nephropathy of unknown origin; Diabetes insipidus, neurohypophyseal