ITGA6

Red ITGA6 in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

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 1.11

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 2.7
Latest signed off version: v2.2 (22 Mar 2023)

Sources

• Expert Review Green

Phenotypes

• Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730

Red ITGA6 in Ectodermal dysplasia

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

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 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE Additional Gene List
• Expert Review Green

Phenotypes

• Epidermolysis Bullosa with Pyloric Atresia. 226730

Red ITGA6 in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Red

Phenotypes

• EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730

Green ITGA6 in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Epidermolysis bullosa, junctional, with pyloric stenosis, 226730