1. Panels
  2. Amelogenesis imperfecta
  3. LAMC2
STRs in panel
Prev Next
Regions in panel
Prev Next

Amelogenesis imperfecta

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Enamel hypoplasia/pitting is a feature.
Created: 13 Aug 2021, 6:04 a.m. | Last Modified: 13 Aug 2021, 6:04 a.m.
Panel Version: 0.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650

Publications

Created: 13 Aug 2021, 6:04 a.m.
Last Modified: 13 Aug 2021, 6:04 a.m.
Panel version: 0.62

Details

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

History Filter Activity

13 Aug 2021, 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).

13 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamc2 has been classified as Amber List (Moderate Evidence).

13 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMC2 were changed from Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700 to Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650

13 Aug 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

7 May 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMC2 was added gene: LAMC2 was added to Amelogenesis imperfecta. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: LAMC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LAMC2 were set to 26956061 Phenotypes for gene: LAMC2 were set to Amelogenesis Imperfecta; Epidermolysis bullosa, junctional, non-Herlitz type, 226650; Epidermolysis bullosa, junctional, Herlitz type, 226700