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  3. LAMB3
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Epidermolysis bullosa

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 13 Feb 2021, 7:24 a.m. | Last Modified: 13 Feb 2021, 7:24 a.m.
Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 13 Feb 2021, 7:24 a.m.
Last Modified: 13 Feb 2021, 7:24 a.m.
Panel version: 0.78

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650
OMIM
150310
Clinvar variants
Variants in LAMB3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb3 has been classified as Green List (High Evidence).

13 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMB3 were changed from to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650

13 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMB3 were set to

13 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMB3 was added gene: LAMB3 was added to Epidermolysis bullosa_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMB3 was set to Unknown