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  3. LAMA3
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Fetal anomalies

Gene: LAMA3

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Presentation is post-natal.
Created: 13 Jan 2022, 3:37 a.m. | Last Modified: 13 Jan 2022, 3:37 a.m.
Panel Version: 0.1973

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type (MIM#226700); Epidermolysis bullosa, generalized atrophic benign (MIM#226650)

Created: 13 Jan 2022, 3:37 a.m.
Last Modified: 13 Jan 2022, 3:37 a.m.
Panel version: 0.1973

Daniel Flanagan (Victorian Clinical Genetics Services)

I don't know

Biallelic LAMA3 variants cause epidermolysis bullosa, blistering is present at birth or shortly after.

LAMA3 also associated with Laryngoonychocutaneous syndrome, which appears to have ulceration and other features onset in the first few months of life.
Created: 10 Jan 2022, 3:37 a.m. | Last Modified: 10 Jan 2022, 3:46 a.m.
Panel Version: 0.1933

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epidermolysis bullosa, junctional, Herlitz type (MIM#226700); Epidermolysis bullosa, generalized atrophic benign (MIM#226650)

Publications

Created: 10 Jan 2022, 3:37 a.m.
Last Modified: 10 Jan 2022, 3:46 a.m.
Panel version: 0.1933

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • 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: 1

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional, Herlitz type (MIM#226700) to Epidermolysis bullosa, junctional 2A, intermediate MIM#619783; Epidermolysis bullosa, junctional 2B, severe MIM#619784; Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous MIM#245660

13 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama3 has been classified as Red List (Low Evidence).

13 Jan 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA3 were changed from Epidermolysis bullosa, junctional 226700 to Epidermolysis bullosa, junctional, Herlitz type (MIM#226700)

13 Jan 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA3 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA3 was added gene: LAMA3 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional 226700