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  3. LAMC2
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Epidermolysis bullosa and congenital skin fragility

Gene: LAMC2

Green List (high evidence)
LAMC2 (laminin subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000058085
EnsemblGeneIds (GRCh37): ENSG00000058085
OMIM: 150292, Gene2Phenotype
LAMC2 is in 4 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epidermolysis bullosa, junctional, Herlitz type, 226700;Epidermolysis bullosa, junctional, non-Herlitz type, 226650;Junctional Epidermolysis Bullosa;Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)
Created: 24 Mar 2021, 1:11 p.m. | Last Modified: 24 Mar 2021, 1:11 p.m.
Panel Version: 1.33
Created: 24 Mar 2021, 1:11 p.m.
Last Modified: 24 Mar 2021, 1:11 p.m.
Panel version: 1.33

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: Imported from Epidermolysis bullosa panel version 0

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status from amber to green based on reviewer suggestion and evidence in the literature
Created: 21 Apr 2017, 11:31 a.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Herlitz junctional epidermolysis bullosa PMID:8012393, 8012394,10951251,11810295 and non-Herlitz junctional epidermolysis bullosa PMID:11564184,20336083 (mouse model),11907499,16473856
Created: 21 Apr 2017, 9:56 a.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer
Created: 21 Apr 2017, 9:31 a.m.
Created: 21 Apr 2017, 9:31 a.m.

Panel version: Imported from Epidermolysis bullosa panel version 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
OMIM
150292
Clinvar variants
Variants in LAMC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Junctional Epidermolysis Bullosa; Severe generalised junctional Epidermolysis bullosa (occasionally intermediate) to Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700; Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LAMC2 was added gene: LAMC2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMC2 were set to 20336083; 11564184; 8012393; 16473856; 10951251; 11810295; 11907499; 8012394 Phenotypes for gene: LAMC2 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)