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Monogenic nephrogenic diabetes insipidus

Gene: AQP2

Green List (high evidence)

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

3 reviews

emma baple (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Added the 'treatable' tag due to information available on Orphanet regarding Nephrogenic diabetes insipidus: "Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants." summary reviewed by : Dr Patrick NIAUDET - Last update: February 2007 (http://www.orpha.net).
Created: 10 May 2017, 7:36 a.m.
>3 unrelated cases/families reported (see publications). Majority of variants reported are missense.
Created: 26 Apr 2017, 9:42 a.m.

Olivia Niblock (Genomics England Curator)

Comment on mode of inheritance: Found evidence of both monoallelic and biallelic inheritance. OMIM 107777
Created: 7 Apr 2017, 9:13 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes insipidus, nephrogenic, 125800
  • Nephrogenic Diabetes Insipidus
Tags
treatable
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 May 2017, Gel status: 4

panel promoted to version 1

emma baple (Genomics England Curator)

Ready for use in tiering

9 May 2017, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

26 Apr 2017, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for AQP2 were set to 8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592

7 Apr 2017, Gel status: 3

Upload gene information

Olivia Niblock (Genomics England Curator)

AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: UKGTN

7 Apr 2017, Gel status: 3

Upload gene information

Olivia Niblock (Genomics England Curator)

AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Sources: UKGTN

7 Apr 2017, Gel status: 2

Set Mode of Inheritance

Olivia Niblock (Genomics England Curator)

Mode of inheritance for AQP2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Jun 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Olivia Niblock (Genomics England Curator)

AQP2 was added to monogenic nephrogenic diabetes insipiduspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene AQP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jun 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

AQP2 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)

AQP2 was created by oniblock