Epidermolysis bullosa
Gene: ITGB4

ITGB4 (integrin subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000132470
EnsemblGeneIds (GRCh37): ENSG00000132470
OMIM: 147557, Gene2Phenotype
ITGB4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and animal models.
Created: 13 Feb 2021, 9:03 a.m. | Last Modified: 13 Feb 2021, 9:03 a.m.

Panel Version: 0.84

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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

Publications

Created: 13 Feb 2021, 9:03 a.m.
Last Modified: 13 Feb 2021, 9:03 a.m.
Panel version: 0.84

Details

Mode of Inheritance

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

OMIM

147557

Clinvar variants

Variants in ITGB4

Penetrance

None

Publications

Panels with this gene