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Prepair 500+

Gene: AQP2

Green List (high evidence)

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

1 review

Kate Scarff (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol/name: AQP2
Is the phenotype(s) severe and onset <18yo ? Yes

Well established gene-disease association.
Dominant disease is caused by variants exerting a dominant negative effect, whereas recessive disease is caused by bi-allelic loss of function variants. Onset in infancy. Causes severe dehydration, can be life-threatening.
Treatments available: hydration, low-salt, low-protein diet, thiazide diuretics, amiloride, indomethacin
Created: 24 Jul 2024, 6:09 a.m. | Last Modified: 24 Jul 2024, 6:09 a.m.
Panel Version: 1.9

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic, type 2 MIM# 125800

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes insipidus, nephrogenic, type 2 MIM# 125800
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Apr 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AQP2 were changed from Diabetes insipidus, nephrogenic, 125800 (3) to Diabetes insipidus, nephrogenic, type 2 MIM# 125800

24 Apr 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AQP2 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: AQP2 was added gene: AQP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)