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 1.3

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 1.6

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 1.49
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 1.26
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 1.96

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 1.20
    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 2.14
    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 1.717
    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 2.55
    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 1.84

    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