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Prepair 1000+

Gene: LAMC2

Green List (high evidence)

LAMC2 (laminin subunit gamma 2)
EnsemblGeneIds (GRCh38): ENSG00000058085
EnsemblGeneIds (GRCh37): ENSG00000058085
OMIM: 150292, Gene2Phenotype
LAMC2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786

Clare Hunt (Victorian Clinical Genetics Services)

LAMC2, HGNC:6493. From OMIM; Intermediate junctional epidermolysis bullosa 3A (JEB3A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB
Created: 6 Feb 2025, 7:18 a.m. | Last Modified: 6 Feb 2025, 7:18 a.m.
Panel Version: 1.1459

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, MIM#619785
  • Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786
OMIM
150292
Clinvar variants
Variants in LAMC2
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamc2 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMC2 were changed from Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) to Epidermolysis bullosa, junctional, Herlitz type, MIM#619785; Epidermolysis bullosa, junctional, non-Herlitz type, MIM#619786

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMC2

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMC2 was added gene: LAMC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)