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  3. AQP2
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Hereditary isolated 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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

AQP2 has been added to the panel for R440 Neuropophyseal diabetes insipidus with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMS
Created: 5 Oct 2023, 9:21 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes insipidus, nephrogenic, 2, OMIM:125800

Created: 5 Oct 2023, 9:21 a.m.

Panel version: 1.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Diabetes insipidus, nephrogenic, 2, OMIM:125800
OMIM
107777
Clinvar variants
Variants in AQP2
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: AQP2. Tag Q4_23_NHS_review was removed from gene: AQP2.

9 Oct 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AQP2. Rating Changed from Red List (low evidence) to Green List (high evidence)

5 Oct 2023, Gel status: 1

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: AQP2. Tag Q4_23_NHS_review tag was added to gene: AQP2.

5 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AQP2 was added gene: AQP2 was added to Neuropophyseal diabetes insipidus. Sources: NHS GMS 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, OMIM:125800 Review for gene: AQP2 was set to GREEN