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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 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)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

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.
Created: 21 Apr 2017, 9:05 a.m.

Panel version: 0.30

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