AQP1

aquaporin 1 (Colton blood group)
OMIM: 107776, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber AQP1 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, AQP1-related

Amber AQP1 in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924, AQP1-related

Red AQP1 in Lymphoedema_syndromic

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 0.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review Unknown
    Sources
    • Literature
    • Expert Review Red
    Phenotypes
    • [Blood group, Colton] 110450
    • Aquaporin-1 deficiency