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 4 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
severe generalised junctional Epidermolysis bullosa (occasionally intermediate)

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from amber to green based on expert reviewer suggestion and evidence in the literature
Created: 21 Apr 2017, 11:32 a.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases Herlitz form of junctional epidermolysis bullosa PMID:7698759;8824879;9205497 and non-Herlitz type of junctional epidermolysis bullosa PMID:7706760,8824879,9856855
Created: 21 Apr 2017, 9:16 a.m.
Comment on phenotypes: reformatted and added suggestions from reviewer
Created: 21 Apr 2017, 9:05 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, 226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, 226650
  • Junctional Epidermolysis Bullosa
  • Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
OMIM
150310
Clinvar variants
Variants in LAMB3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Apr 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

21 Apr 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for LAMB3 were set to 7698759;8824879;9205497;7706760;8824879;9856855

21 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB3 was added to Epidermolysis bullosapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB3 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMB3 was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB3 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing