Ectodermal dysplasia

Gene: ITGB4

Red List (low evidence)

ITGB4 (integrin subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000132470
EnsemblGeneIds (GRCh37): ENSG00000132470
OMIM: 147557, Gene2Phenotype
ITGB4 is in 10 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: there is no direct evidence for the role of ITGB4 in cicatricial/scarring alopecia.
Created: 13 Jul 2017, 1:41 p.m.
Emory report that the three genes known to be associated with Epodermolysis Bullosa with Pyloric Atresia (EB-PA) are ITGB4, ITGA6 and PLEC. Emory isn't cited as a source for ITGB4 and ITGA6 in PanelApp because the Emory gene test is for PLEC only. Features of EB-PA include scarring (cicatricial) alopecia.
Created: 22 Nov 2016, 4:50 p.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Red
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
  • EB-PA
  • scarring alopecia
Clinvar variants
Variants in ITGB4
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ITGB4 was added gene: ITGB4 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB4 were set to 20301336 Phenotypes for gene: ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; EB-PA; scarring alopecia