Epidermolysis bullosa

Gene: ITGA3

Green List (high evidence)

ITGA3 (integrin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000005884
EnsemblGeneIds (GRCh37): ENSG00000005884
OMIM: 605025, Gene2Phenotype
ITGA3 is in 11 panels

2 reviews

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.

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
  • Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome
  • Junctional Epidermolysis bullosa
OMIM
605025
Clinvar variants
Variants in ITGA3
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.

21 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA3 were set to 26719633; 27717396; 26854491; 22512483; 23114595

21 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).

21 Apr 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for ITGA3 were set to 23176819;26719633;27717396;26854491; 22512483;23114595

21 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa syndrome; Junctional Epidermolysis bullosa

21 Apr 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ITGA3 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital; Junctional Epidermolysis bullosa

21 Apr 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for ITGA3 was changed to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA3 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ITGA3 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGA3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing