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  2. Newborns additional phenotypes panel 1
  3. AQP2
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Newborns additional phenotypes panel 1

Gene: AQP2

Green List (high evidence)
AQP2 (aquaporin 2)
EnsemblGeneIds (GRCh38): ENSG00000167580
EnsemblGeneIds (GRCh37): ENSG00000167580
OMIM: 107777, Gene2Phenotype
AQP2 is in 6 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD (DN) and AR (LOF) forms of Diabetes insipidus are included.
Created: 25 Sep 2024, 2:59 p.m. | Last Modified: 18 Nov 2025, 3:19 p.m.
Panel Version: 0.102
Created: 25 Sep 2024, 2:59 p.m.
Last Modified: 18 Nov 2025, 3:19 p.m.
Panel version: 0.100

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.29
Genetic basis of nephrogenic diabetes insipidus - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
At least 13 pathogenic variants (6missensevariants, a 1-bpinsertion, and 6 small deletions) that give rise toautosomal dominantNDI are located in the carboxy-terminal region of aquaporin-2, a region considered to be important for targeting of the protein
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.25
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.29

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Dominant diabetes insipidus, nephrogenic, 2
Tags
special_consideration
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: AQP2.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Dominant diabetes insipidus, nephrogenic, 2 for gene: AQP2

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to AQP2. Added phenotypes Dominant diabetes insipidus, nephrogenic, 2 for gene: AQP2 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: AQP2 was added gene: AQP2 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Amber Mode of inheritance for gene: AQP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AQP2 were set to Dominant diabetes insipidus, nephrogenic, 2 Mode of pathogenicity for gene: AQP2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments