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Diabetes Insipidus

Gene: AQP2

Green List (high evidence)
AQP2 (aquaporin 2)
EnsemblGeneIds (GRCh38): ENSG00000167580
EnsemblGeneIds (GRCh37): ENSG00000167580
OMIM: 107777, Gene2Phenotype
AQP2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Onset in infancy. Causes severe dehydration, can be life-threatening.

Treatment: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin.

Clinical trials.
Created: 22 Sep 2022, 12:21 a.m. | Last Modified: 22 Sep 2022, 12:21 a.m.
Panel Version: 1.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic MIM#125800

Created: 22 Sep 2022, 12:21 a.m.
Last Modified: 22 Sep 2022, 12:21 a.m.
Panel version: 1.1

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established cause of nephrogenic diabetes insipidus. Loss of function is the mechanism of disease for the recessive form, while the dominantly inherited form is caused by pathogenic variants with a dominant negative effect.
Sources: Expert list
Created: 2 Dec 2020, 1:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic MIM#125800

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 2 Dec 2020, 1:24 a.m.

Panel version: 0.3

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Diabetes insipidus, nephrogenic MIM#125800
Tags
treatable clinical trial
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: AQP2. Tag clinical trial tag was added to gene: AQP2.

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aqp2 has been classified as Green List (High Evidence).

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: aqp2 has been classified as Green List (High Evidence).

2 Dec 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: AQP2 was added gene: AQP2 was added to Diabetes Insipidus. Sources: Expert list Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: AQP2 were set to 7524315; 20301356; 27156763; 9649557 Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic MIM#125800 Review for gene: AQP2 was set to GREEN gene: AQP2 was marked as current diagnostic