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LAMA3

Synonyms
BM600, E170, LAMNA, LOCS
External resources
Summary
The protein encoded by this gene belongs to the laminin family of secreted molecules. Laminins are heterotrimeric molecules that consist of alpha, beta, and gamma subunits that assemble through a coiled-coil domain. Laminins are essential for formation and function of the basement membrane and have additional functions in regulating cell migration and mechanical signal transduction. This gene encodes an alpha subunit and is responsive to several epithelial-mesenchymal regulators including keratinocyte growth factor, epidermal growth factor and insulin-like growth factor. Mutations in this gene have been identified as the cause of Herlitz type junctional epidermolysis bullosa and laryngoonychocutaneous syndrome. Alternative splicing and alternative promoter usage result in multiple transcript variants.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
136
Likely pathogenic
2
VUS
11,804
Likely benign
5,649
Benign
5

Patient Phenotypes

Proportions of phenotypes among 127 patients carrying pathogenic or likely pathogenic variants on LAMA3 gene are displayed below. The following symptoms were found in patients with a variant in LAMA3. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of head or neck
27.6%
Abnormality of the musculoskeletal system
27.6%
Abnormality of the eye
17.3%
Abnormality of the cardiovascular system
15.7%
Abnormality of the ear
15%
Abnormality of the integument
11.8%
Abnormality of the digestive system
10.2%
Abnormality of the genitourinary system
9.4%
Growth abnormality
8.7%
Abnormality of metabolism homeostasis
7.9%
Abnormality of blood and blood forming tissues
7.1%
Abnormality of limbs
7.1%
Abnormality of the immune system
7.1%
Abnormality of the respiratory system
4.7%
Abnormality of prenatal development or birth
3.9%
Abnormality of the endocrine system
1.6%
Abnormal cellular phenotype
0.8%
Neoplasm
0.8%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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