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LAMA1

Synonyms
LAMA, PTBHS, S-LAM-alpha
External resources
Summary
This gene encodes one of the alpha 1 subunits of laminin. The laminins are a family of extracellular matrix glycoproteins that have a heterotrimeric structure consisting of an alpha, beta and gamma chain. These proteins make up a major component of the basement membrane and have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Mutations in this gene may be associated with Poretti-Boltshauser syndrome.

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
44
Likely pathogenic
0
VUS
8,087
Likely benign
10,231
Benign
358

Patient Phenotypes

Proportions of phenotypes among 41 patients carrying pathogenic or likely pathogenic variants on LAMA1 gene are displayed below. The following symptoms were found in patients with a variant in LAMA1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
61%
Abnormality of head or neck
29.3%
Abnormality of the eye
29.3%
Abnormality of the musculoskeletal system
29.3%
Growth abnormality
26.8%
Abnormality of the ear
14.6%
Abnormality of limbs
7.3%
Abnormality of the cardiovascular system
7.3%
Abnormality of metabolism homeostasis
4.9%
Abnormality of the digestive system
4.9%
Abnormality of the genitourinary system
4.9%
Abnormality of the immune system
4.9%
Abnormality of blood and blood forming tissues
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
2.4%
Abnormal cellular phenotype
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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