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Fetal anomalies

Gene: LAMB3

Red List (low evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Features apparent after birth.
Created: 13 Jan 2022, 3:45 a.m. | Last Modified: 13 Jan 2022, 3:45 a.m.
Panel Version: 0.1978

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type (MIM#226700); Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650)

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Biallelic LAMB3 variants cause epidermolysis bullosa, with blistering present at birth. Well established gene-disease association.

LAMB3 also causes dominant amelogenesis imperfecta, which is not antenatally relevant.
Created: 10 Jan 2022, 3:56 a.m. | Last Modified: 10 Jan 2022, 3:56 a.m.
Panel Version: 0.1933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type (MIM#226700); Epidermolysis bullosa, junctional, non-Herlitz type (MIM#226650)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional 226650
  • Epidermolysis bullosa, junctional 226700
OMIM
150310
Clinvar variants
Variants in LAMB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb3 has been classified as Red List (Low Evidence).

13 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMB3 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional 226650; Epidermolysis bullosa, junctional 226700