Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: AVP

No list

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

2 reviews

Sian Ellard (University of Exeter Medical School)

suggest remove from panel as mutations cause diabetes insipidus not mellitus
Created: 18 Oct 2015, 8:14 a.m.

Ellen McDonagh (Genomics England Curator)

Remove this gene from the panel.
Created: 19 Oct 2015, 8:14 a.m.
Reviewers please note that this gene is associated with a Diabetes insipidus phenotype. Should this be included on the Diabetes with additional phenotypes suggestive of a monogenic aetiology panel?
Created: 22 Jul 2015, 3:19 p.m.

Details

Sources
  • Expert Review Removed
  • 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

25 Jul 2016, Gel status: 0

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

22 Jul 2016, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

7 Jun 2016, Gel status: 0

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been removed from the panel.

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AVP was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen