1. Genes and Genomic Entities
  2. ITGB4

ITGB4

integrin subunit beta 4
OMIM: 147557, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
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 1.11

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 2.7
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


Version 3.29
Latest signed off version: v3.0 (22 Mar 2023)

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 1.119

Component of the following Super Panels:

  • Renal superpanel - broad

    		•  review Not set
    Sources
    • Eligibility statement prior genetic testing
    Red ITGB4 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.12
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.184

    		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