ITGB4

integrin subunit beta 4
OMIM: 147557, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ITGB4 in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.15	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa of hands and feet, MIM# 131800 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Green ITGB4 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa of hands and feet, MIM# 131800 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Red ITGB4 in Proteinuria Level 2: Renal and urinary tract disorders Version 0.225 Component of the following Super Panels: Kidneyome_SuperPanel Renal Glomerular Disease_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
Red ITGB4 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Epidermolysis bullosa, junctional 5A, intermediate MIM#619816 Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730
Green ITGB4 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Green ITGB4 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia
Green ITGB4 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730
Green ITGB4 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730
Green ITGB4 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Red ITGB4 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 Epidermolysis bullosa of hands and feet, MIM# 131800 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Green ITGB4 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)