Genomics England
GMS Panels
Panels
Genes and Entities
IPO8
importin 8
OMIM:
605600
See this entity in PanelApp
Panel
Mode of inheritance
Details
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1 panel
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