ITGB4

integrin subunit beta 4
OMIM: 147557, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red ITGB4 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.5	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Epidermolysis Bullosa with Pyloric Atresia EB-PA scarring alopecia Epidermolysis bullosa, junctional, with pyloric atresia, 226730
Green ITGB4 in Epidermolysis bullosa Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 Epidermolysis bullosa with pyloric atresia Epidermolysis bullosa, junctional, non-Herlitz type, 226650 Generalised intermediate junctional Epidermolysis bullosa
Green ITGB4 in Epidermolysis bullosa and congenital skin fragility Version 1.53 Latest signed off version: v1.3 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650 Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Red ITGB4 in Ectodermal dysplasia Version 1.41 Latest signed off version: v1.10 (15 Oct 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Epidermolysis Bullosa with Pyloric Atresia Epidermolysis bullosa, junctional, with pyloric atresia, 226730 EB-PA scarring alopecia
Red ITGB4 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.113 Component of the following Super Panels: Renal superpanel - broad	review	Not set	Sources Eligibility statement prior genetic testing
Red ITGB4 in Unexplained paediatric onset end-stage renal disease Version 1.37 Latest signed off version: v1.2 (4 Mar 2020) Component of the following Super Panels: Renal superpanel - broad	review	Unknown	Sources Expert Review Red
Amber ITGB4 in Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.20 Latest signed off version: v2.2 (13 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber UKGTN Eligibility statement prior genetic testing Phenotypes Amelogenesis Imperfecta Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting) Tags watchlist
Green ITGB4 in Fetal anomalies Version 1.880 Latest signed off version: v1.92 (21 Aug 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Epidermolysis Bullosa with Pyloric Atresia. 226730
Red ITGB4 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 2.77 Latest signed off version: v2.32 (16 Oct 2020) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis #226730
Green ITGB4 in Severe Paediatric Disorders Version 1.127	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 Epidermolysis bullosa of hands and feet, 131800 Epidermolysis bullosa, junctional, non-Herlitz type, 226650