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Epidermolysis bullosa and congenital skin fragility

Gene: ITGB4

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

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Generalised intermediate junctional Epidermolysis bullosa;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Epidermolysis bullosa, junctional, with pyloric atresia, 226730;Epidermolysis bullosa with pyloric atresia
Created: 24 Mar 2021, 11:32 a.m. | Last Modified: 24 Mar 2021, 11:32 a.m.
Panel Version: 1.23
Created: 24 Mar 2021, 11:32 a.m.
Last Modified: 24 Mar 2021, 11:32 a.m.
Panel version: 1.23

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

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epidermolysis bullosa panel version 0

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.
Created: 20 Apr 2017, 8:27 a.m.

Panel version: Imported from Epidermolysis bullosa panel version 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
OMIM
147557
Clinvar variants
Variants in ITGB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ITGB4 were changed from Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia to Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650; Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730

3 Jan 2019, Gel status: 4

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 Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB4 were set to 18348258; 10792571; 7545057; 10484780 Phenotypes for gene: ITGB4 were set to Generalised intermediate junctional Epidermolysis bullosa; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, with pyloric atresia, 226730; Epidermolysis bullosa with pyloric atresia