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 1.3

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

Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0 (30 Nov 2022)

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 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 3.11
Latest signed off version: v3.0 (30 Nov 2022)

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


Version 2.1
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