Primary lymphoedema
Gene: AQP1
AQP1 (aquaporin 1 (Colton blood group))
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000240583
EnsemblGeneIds (GRCh37): ENSG00000240583
OMIM: 107776, Gene2Phenotype
AQP1 is in 4 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 panelCreated: 1 Nov 2016, 4:52 p.m.
Pia Ostergaard (St George's)
Not in the lymphoedema clinicCreated: 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