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  2. Kidneyome_SuperPanel_KidGen_VCGS
  3. ITGB4
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: ITGB4

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730
OMIM
147557
Clinvar variants
Variants in ITGB4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 for gene: ITGB4

23 Dec 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: ITGB4 was added gene: ITGB4 was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert Review Red,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGB4 were set to 10873890 Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730