Genomics England

integrin subunit alpha 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748
Green in Epidermolysis bullosa and congenital skin fragility R-numbers: R164 Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa, nonspecific, autosomal recessive, 615028, Junctional Epidermolysis bullosa, Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Green in Fetal anomalies R-numbers: R21 Signed-off version 1.92	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Green in Proteinuric renal disease R-numbers: R195 Signed-off version 2.32	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748
Green in Unexplained paediatric onset end-stage renal disease R-numbers: R257 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748