Genomics England

integrin subunit alpha 3

Panel	Mode of inheritance	Details
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Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, MONDO:0013881, Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome, OMIM:614748
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	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 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748