Epidermolysis bullosa

Gene: ITGB4

Green List (high evidence)

ITGB4 (integrin subunit beta 4)
EnsemblGeneIds (GRCh38): ENSG00000132470
EnsemblGeneIds (GRCh37): ENSG00000132470
OMIM: 147557, Gene2Phenotype
ITGB4 is in 11 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa with pyloric atresia; generalised intermediate junctional Epidermolysis bullosa

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from amber to green due to expert review
Created: 20 Apr 2017, 10:56 a.m.
Comment on publications: Added publications with evidence for cases with Epidermolysis bullosa, junctional, with pyloric stenosis PMID: 10484780,7545057,18348258. Epidermolysis bullosa, junctional, non-Herlitz type PMID:10792571
Created: 20 Apr 2017, 10:56 a.m.
Comment on phenotypes: Added phenotypes suggested by reviewer and reformatted the order
Created: 20 Apr 2017, 8:27 a.m.

Details

Mode of Inheritance
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 atresia, 226730
  • Epidermolysis bullosa with pyloric atresia
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Generalised intermediate junctional Epidermolysis bullosa
OMIM
147557
Clinvar variants
Variants in ITGB4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

20 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGB4 were set to 10484780;7545057;18348258;10792571

20 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Generalised intermediate junctional Epidermolysis bullosa

20 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia (AR), 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type (AR), 226650; Generalised intermediate junctional Epidermolysis bullosa

20 Apr 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ITGB4 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Apr 2017, Gel status: 2

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ITGB4 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa of hands and feet, 131800

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB4 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB4 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGB4 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB4 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing