Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: LAMB3

Green List (high evidence)

LAMB3 (laminin subunit beta 3)
EnsemblGeneIds (GRCh38): ENSG00000196878
EnsemblGeneIds (GRCh37): ENSG00000196878
OMIM: 150310, Gene2Phenotype
LAMB3 is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe junctional epidermolysis bullosa 1B - characterised by extreme fragility of the skin and epithelia of various extracutaneous tissues. Blisters and erosions are present at birth. Blister formation occurs within the dermal-epidermal basement membrane zone. Patients usually die before 1 year of age.

Intermediate junctional epidermolysis bullosa 1A - Generalized trauma-induced blistering occurs from birth. Blistering is less severe than in severe JEB, usually without the tendency for developing chronic granulation tissue. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nail dystrophy or loss and dental enamel defects are present. Scarring or nonscarring alopecia and diffuse hair loss may occur. Blistering does not affect the life span of affected individuals.

Animal model present.

PMID: 11810295 - Most cases with Herlitz (severe) junctional EB harbour premature termination codon (PTC) mutations in both alleles. In non-Herlitz cases, the PTC mutation was frequently associated with a missense mutation or a putative splicing mutation in trans (compound het).
Created: 8 Nov 2024, 11:43 a.m. | Last Modified: 8 Nov 2024, 11:43 a.m.
Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional 1A, intermediate MIM#226650; Epidermolysis bullosa, junctional 1B, severe MIM#226700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
OMIM
150310
Clinvar variants
Variants in LAMB3
Penetrance
None
Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMB3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMB3 was added gene: LAMB3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)