IPO8

importin 8
OMIM: 605600, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green IPO8 in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in Disorders of immune dysregulation Level 2: Immunological disorders Version 1.5 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472 Loeys-Dietz syndrome-like cardiovascular, neurologic, skeletal and immunologic abnormalities
Green IPO8 in Pneumothorax Level 3: Structural lung disorders Level 2: Respiratory disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Loeys-Dietz syndrome MONDO:0018954