IPO8

importin 8
OMIM: 605600, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber IPO8 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • cardiovascular anomalies
  • joint hyperlaxity
  • dysmorphic features
  • developmental delay
  • immune dysregulation
  • allergy
Tags
  • watchlist
Green IPO8 in Thoracic aortic aneurysm or dissection (GMS)


Version 3.11
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome-like
  • cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in Thoracic aortic aneurysm or dissection

Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Loeys-Dietz syndrome-like
  • cardiovascular, neurologic, skeletal and immunologic abnormalities
Amber IPO8 in Ehlers Danlos syndrome with a likely monogenic cause

Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Loeys-Dietz syndrome-like
  • cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • IPO8-related syndromic thoracic aortic aneurysm