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Epidermolysis bullosa and congenital skin fragility

Gene: ITGA3

Green List (high evidence)
ITGA3 (integrin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Junctional Epidermolysis bullosa;Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
Created: 24 Mar 2021, 11:30 a.m. | Last Modified: 24 Mar 2021, 11:30 a.m.
Panel Version: 1.21
Created: 24 Mar 2021, 11:30 a.m.
Last Modified: 24 Mar 2021, 11:30 a.m.
Panel version: 1.21

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed status from Red to Green based on expert reviewer suggestion (although with reservations), however recent evidence in the literature supports the association with the rare autosomal recessive multiorgan disorder comprising interstitial lung disease, nephrotic syndrome, and junctional epidermolysis bullosa
Created: 21 Apr 2017, 1:20 p.m.
Created: 21 Apr 2017, 1:09 p.m.

Panel version: Imported from Epidermolysis bullosa panel version 0.56

John McGrath (King's College London)

Green List (high evidence)

junctional EB - this one has a slight concern - the first 2 cases had some blisters (minor) but the main phenotype is proteinuria and lung infiltration - the last 3 cases have not had any blistering. Still, it's in the classification so it should be green (for now).
Created: 19 Nov 2015, 3:43 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
junctional Epidermolysis bullosa

Created: 19 Nov 2015, 3:43 p.m.

Panel version: Imported from Epidermolysis bullosa panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
OMIM
605025
Clinvar variants
Variants in ITGA3
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: ITGA3 were changed from Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ITGA3 was added gene: ITGA3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGA3 were set to 26854491; 23114595; 27717396; 22512483; 26719633 Phenotypes for gene: ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Junctional Epidermolysis bullosa; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome