ITGB4

integrin subunit beta 4
OMIM: 147557, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Red ITGB4 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.6	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 1.12	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 Level 2: Dermatology Version 2.13 Latest signed off version: v2.2 (22 Mar 2023)	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 Level 2: Dermatology Version 4.23 Latest signed off version: v4.0 (30 Apr 2025)	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 1.124	review	Not set	Sources Eligibility statement prior genetic testing
Amber ITGB4 in Amelogenesis imperfecta Level 2: Musculoskeletal Version 4.26 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Renal Version 5.7 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	Not set	Sources NHS GMS Expert Review Red Eligibility statement prior genetic testing Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis #226730