Genomics England
GMS Panels
Panels
Genes and Entities

ITGB4

integrin subunit beta 4
OMIM: 147557
PanelMode of inheritanceDetails
2 panels
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650, Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis Bullosa with Pyloric Atresia. 226730