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BabyScreen+ newborn screening

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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.

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

Clinical trials.
Created: 22 Sep 2022, 12:16 a.m. | Last Modified: 22 Sep 2022, 12:16 a.m.
Panel Version: 0.116

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic, MIM#125800

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BeginNGS
Phenotypes
  • Diabetes insipidus, nephrogenic, 2, MIM#125800
Tags
treatable clinical trial endocrine
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag endocrine tag was added to gene: AQP2.

22 Sep 2022, 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).

22 Sep 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AQP2 were set to

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.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AQP2 was added gene: AQP2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: AQP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 2, MIM#125800