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Hereditary isolated diabetes insipidus

Gene: AQP1

No list
AQP1 (aquaporin 1 (Colton blood group))
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

The rating of this gene has been updated from Green to Grey in R440 Neuropophyseal diabetes insipidus, as agreed with the NHS Genomic Medicine Service.
Created: 5 Oct 2023, 9:24 a.m. | Last Modified: 9 Oct 2023, 8:03 p.m.
Panel Version: 1.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 5 Oct 2023, 9:24 a.m.
Last Modified: 9 Oct 2023, 8:03 p.m.
Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 2:25 p.m. | Last Modified: 31 Jan 2023, 2:27 p.m.
Panel Version: 0.3
Created: 31 Jan 2023, 2:25 p.m.
Last Modified: 31 Jan 2023, 2:27 p.m.
Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
Tags
curated_removed
OMIM
107776
Clinvar variants
Variants in AQP1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2023, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag curated_removed tag was added to gene: AQP1.

9 Oct 2023, Gel status: 0

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_NHS_review was removed from gene: AQP1.

9 Oct 2023, Gel status: 0

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Removed was added to AQP1. Rating Changed from Green List (high evidence) to No List (delete)

5 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_NHS_review tag was added to gene: AQP1.

31 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Sarah Leigh (Genomics England Curator)

gene: AQP1 was added gene: AQP1 was added to Neuropophyseal diabetes insipidus. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown