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Amelogenesis imperfecta
Gene: ITGB4

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)

Green List (high evidence)

Enamel anomalies are a feature of these ectodermal dysplasias.
Created: 13 Aug 2021, 1:23 a.m. | Last Modified: 13 Aug 2021, 1:23 a.m.

Panel Version: 0.56

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730

Created: 13 Aug 2021, 1:23 a.m.
Last Modified: 13 Aug 2021, 1:23 a.m.
Panel version: 0.56

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730

OMIM

Clinvar variants

Variants in ITGB4

Penetrance

None

Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb4 has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia) to Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730

13 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ITGB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: itgb4 has been classified as Green List (High Evidence).

7 May 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ITGB4 was added gene: ITGB4 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ITGB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (includes enamel pitting); Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (includes Enamel hypoplasia)