AQP1

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

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red AQP1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Amber AQP1 in Pulmonary arterial hypertension


Level 2: Respiratory
Version 4.5
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Literature
Phenotypes
  • Heritable pulmonary arterial hypertension, HPAH, MONDO:0017148
Tags
  • watchlist
Red AQP1 in Primary lymphoedema


Level 2: Cardiology
Version 4.21
Latest signed off version: v4.0 (30 Apr 2025)

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Aquaporin-1 deficiency
  • [Blood group, Colton] 110450
No list AQP1 in Hereditary isolated diabetes insipidus


Level 2: Endocrinology
Version 2.2
Latest signed off version: v2.0 (20 Dec 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • NHS GMS
Tags
  • curated_removed