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 5 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

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 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.

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)