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  3. LAMA3
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Amelogenesis imperfecta

Gene: LAMA3

Green List (high evidence)
LAMA3 (laminin subunit alpha 3)
EnsemblGeneIds (GRCh38): ENSG00000053747
EnsemblGeneIds (GRCh37): ENSG00000053747
OMIM: 600805, Gene2Phenotype
LAMA3 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Enamel defects are part of all three conditions.

Laryngoonychocutaneous syndrome has been described in multiple Pakistani families.
Created: 12 Aug 2021, 10:35 a.m. | Last Modified: 12 Aug 2021, 10:35 a.m.
Panel Version: 0.30

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660

Created: 12 Aug 2021, 10:35 a.m.
Last Modified: 12 Aug 2021, 10:35 a.m.
Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Epidermolysis bullosa, junctional 2A, intermediate MIM#619783
  • Epidermolysis bullosa, junctional 2B, severe MIM#619784
  • Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660
OMIM
600805
Clinvar variants
Variants in LAMA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660 to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama3 has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA3 were changed from Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660

12 Aug 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LAMA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA3 was added gene: LAMA3 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LAMA3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: LAMA3 were set to 22434185; 26502894; 27827380 Phenotypes for gene: LAMA3 were set to Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type