Familial cicatricial alopecia

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.

Details

Mode of Inheritance
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
OMIM
147557
Clinvar variants
Variants in ITGB4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.

13 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene ITGB4 were set to Epidermolysis Bullosa with Pyloric Atresia; EB-PA; scarring alopecia; Epidermolysis bullosa, junctional, with pyloric atresia, 226730

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ITGB4 was added to Familial cicatricial alopeciapanel. Sources: Other

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

ITGB4 was created by rfoulger