Multi-organ autoimmune diabetes

Gene: AQP2

No list

AQP2 (aquaporin 2)
EnsemblGeneIds (GRCh38): ENSG00000167580
EnsemblGeneIds (GRCh37): ENSG00000167580
OMIM: 107777, Gene2Phenotype
AQP2 is in 5 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed due to expert review.
Created: 22 Jul 2016, 3:03 p.m.

Sian Ellard (University of Exeter Medical School)

Remove gene from panel
Created: 8 Dec 2015, 2:32 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus
Tags
curated_removed
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: AQP2.

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.

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.

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene AQP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

AQP2 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AQP2 was added to Multi-organ autoimmune diabetespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services