Primary lymphoedema

Gene: AQP1

Red List (low evidence)

AQP1 (aquaporin 1 (Colton blood group))
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 3 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD, but not relevant to this panel. One report of occasional edema of the lower legs (PMID 11463012)
Created: 1 Nov 2016, 4:55 p.m.
Comment on phenotypes: Phenotypes not relevant to this panel
Created: 1 Nov 2016, 4:52 p.m.

Pia Ostergaard (St George's)

Red List (low evidence)

Not in the lymphoedema clinic
Created: 1 Nov 2016, 3:51 p.m.

Mode of inheritance
Unknown

Phenotypes
Aquaporin-1 deficiency

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Aquaporin-1 deficiency
  • [Blood group, Colton] 110450
OMIM
107776
Clinvar variants
Variants in AQP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Nov 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

A combined panel for lymphatic disorders - Meiges disease - Milroy disease - Lymphoedema distichiasis Promoted to V1 02/11/2016

1 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

1 Nov 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for AQP1 were set to Aquaporin-1 deficiency; [Blood group, Colton] 110450

30 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

AQP1 was added to Lymphatic Disorderspanel. Sources: Literature

30 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AQP1 was created by sleigh