ITGA6

integrin subunit alpha 6
OMIM: 147556, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red ITGA6 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 stenosis, 226730

Green ITGA6 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 stenosis, 226730
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa with pyloric atresia
  • generalised intermediate junctional Epidermolysis bullosa

Green ITGA6 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, with pyloric stenosis, OMIM:226730

Red ITGA6 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
  • EB-PA
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
  • scarring alopecia

Green ITGA6 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 ITGA6 in DDG2P


Version 2.44
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730

    Green ITGA6 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730