Lymphoedema_syndromic

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

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • [Blood group, Colton] 110450
  • Aquaporin-1 deficiency
OMIM
107776
Clinvar variants
Variants in AQP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 1

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

Sue White (Victorian Clinical Genetics Services)

gene: AQP1 was added gene: AQP1 was added to Lymphoedema_syndromic. Sources: Expert Review Red,Literature Mode of inheritance for gene: AQP1 was set to Unknown Publications for gene: AQP1 were set to 11463012 Phenotypes for gene: AQP1 were set to [Blood group, Colton] 110450; Aquaporin-1 deficiency