Proteinuric renal disease

Gene: ITGB4

Red List (low evidence)

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

3 reviews

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ITGB4; Suggested initial gene rating: amber; Evidence for inclusion: PMID: 11328943; Other comments: Unaware of phenotype association with this gene
Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, with pyloric stenosis #226730

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen Thomas (Genomics England Curator)

Comment on list classification: One report in a syndromic case.
Created: 27 May 2016, 12:19 p.m.

Maggie Williams (North Bristol NHS Trust)

I don't know

Currently on UK diagnostic panel, 3 VUS cases over 300 tested. Inheritance suggests AR. Listed in several reviews
Created: 19 Oct 2015, 2:38 p.m.

Phenotypes
epidermolysis bullosa and pyloric atresia + FSGS

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

23 Jun 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: ITGB4 were changed from to Epidermolysis bullosa, junctional, with pyloric stenosis #226730

23 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: ITGB4 were set to

4 Feb 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ITGB4.

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB4 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing

18 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ITGB4 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing