Genomics England
GMS Panels
Panels
Genes and Entities

IPO8

importin 8
OMIM: 605600
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IPO8-related syndromic thoracic aortic aneurysm
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Loeys-Dietz syndrome-like, cardiovascular, neurologic, skeletal and immunologic abnormalities