Epidermolysis bullosa
Gene: LAMA3

LAMA3 (laminin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000053747
EnsemblGeneIds (GRCh37): ENSG00000053747
OMIM: 600805, Gene2Phenotype
LAMA3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and animal model.
Created: 13 Feb 2021, 8:55 a.m. | Last Modified: 13 Feb 2021, 8:55 a.m.

Panel Version: 0.81

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700

Publications

Created: 13 Feb 2021, 8:55 a.m.
Last Modified: 13 Feb 2021, 8:55 a.m.
Panel version: 0.81

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Epidermolysis bullosa, junctional 2A, intermediate MIM#619783
Epidermolysis bullosa, junctional 2B, severe MIM#619784
Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660

OMIM

600805

Clinvar variants

Variants in LAMA3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660

13 Feb 2021, Gel status: 3