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  3. ITGB4
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Proteinuria

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single case report of co-occurence of EB with pyloric atresia and SRNS in the pre-genomic era. Pyelonephrosis described in other cases.
Created: 20 Dec 2019, 2:14 a.m. | Last Modified: 20 Dec 2019, 2:14 a.m.
Panel Version: 0.21

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730

Publications

Created: 20 Dec 2019, 2:14 a.m.
Last Modified: 20 Dec 2019, 2:14 a.m.
Panel version: 0.21

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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

20 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb4 has been classified as Red List (Low Evidence).

20 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGB4 were set to 10873890

20 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGB4 were set to 10873890

20 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ITGB4 were set to

20 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGB4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

20 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb4 has been classified as Red List (Low Evidence).

20 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb4 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB4 was added gene: ITGB4 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ITGB4 was set to Unknown