Research panel - Severe Paediatric Disorders
Gene: ITGB4

ITGB4 (integrin subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000132470
EnsemblGeneIds (GRCh37): ENSG00000132470
OMIM: 147557, Gene2Phenotype
ITGB4 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ITGB4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epidermolysis bullosa of hands and feet, 131800 (3) | Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) | Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:21 p.m.
Last Modified: 20 Feb 2020, 5:21 p.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

147557

Clinvar variants

Variants in ITGB4

Penetrance

None

Publications

30847515

Panels with this gene