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LAMA2

Synonyms
LAMM, MDC1A
External resources
Summary
Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene.

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
59
Likely pathogenic
1
VUS
9,699
Likely benign
3,303
Benign
3,521

Patient Phenotypes

Proportions of phenotypes among 55 patients carrying pathogenic or likely pathogenic variants on LAMA2 gene are displayed below. The following symptoms were found in patients with a variant in LAMA2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
52.7%
Abnormality of the eye
34.5%
Abnormality of head or neck
32.7%
Abnormality of the musculoskeletal system
30.9%
Growth abnormality
21.8%
Abnormality of the ear
16.4%
Abnormality of limbs
14.5%
Abnormality of the cardiovascular system
14.5%
Abnormality of the integument
14.5%
Abnormality of the genitourinary system
9.1%
Abnormality of blood and blood forming tissues
7.3%
Abnormality of the digestive system
7.3%
Abnormality of metabolism homeostasis
5.5%
Abnormality of prenatal development or birth
3.6%
Abnormality of the endocrine system
3.6%
Abnormality of the respiratory system
1.8%
Abnormality of the voice
1.8%
Neoplasm
1.8%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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