LAMA2 Chromosome 6

Laminin subunit alpha 2

1142 variants 1142 Health Risk

Upload your DNA to see your personal genotypes for variants in LAMA2.

What This Gene Does

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. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

Laminin subunits

Locus Type

gene with protein product

Location

6q22.33

Ensembl

ENSG00000196569

Associated Conditions (35)

Merosin deficient congenital muscular dystrophy

LAMA2-related muscular dystrophy

Myalgia

Elevated circulating creatine kinase concentration

Exercise-induced myalgia

Muscular dystrophy

limb-girdle

autosomal recessive 23

Congenital muscular dystrophy due to partial LAMA2 deficiency

LAMA2-related disorder

Intellectual disability

Inborn genetic diseases

Malignant tumor of esophagus

Primary dilated cardiomyopathy

Malignant tumor of urinary bladder

Familial cancer of breast

Ovarian cancer

Cervical cancer

Rare genetic intellectual disability

See cases

+15 more conditions

Key Variants

RS1012171328

Conflicting classifications of pathogenicity

Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy

Health Risk

RS1024374408

Conflicting classifications of pathogenicity

Myalgia, Elevated circulating creatine kinase concentration, Exercise-induced myalgia

Health Risk

RS1057523624

Conflicting classifications of pathogenicity

Health Risk

RS1057524616

Conflicting classifications of pathogenicity

Health Risk

RS1064795750

Conflicting classifications of pathogenicity

Muscular dystrophy, limb-girdle, autosomal recessive 23

Health Risk

RS111632017

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related disorder, LAMA2-related muscular dystrophy

Health Risk

RS112388307

Conflicting classifications of pathogenicity

Health Risk

RS112637707

Conflicting classifications of pathogenicity

Health Risk

RS113022759

Conflicting classifications of pathogenicity

Health Risk

RS115488979

Conflicting classifications of pathogenicity

Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy, LAMA2-related disorder

Health Risk

RS115650537

Conflicting classifications of pathogenicity

Health Risk

RS117116822

Conflicting classifications of pathogenicity

Health Risk

All Variants (1142)

RSID	Category	Clinical Significance	Conditions
RS1786068382	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1786068836	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1786301728	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1786309995	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1787059737	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1787861114	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1787862380	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1789386860	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1789398455	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1789399141	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS1789399872	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS191912891	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2114276133	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114276718	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114357233	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2114450848	Health Risk	Likely pathogenic	Proximal muscle weakness, Proximal muscle weakness
RS2114451064	Health Risk	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23
RS2114451604	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114494623	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114501078	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2114532990	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Abnormality of the musculature, Merosin deficient congenital muscular dystrophy
RS2114593671	Health Risk	Likely pathogenic	Abnormality of the musculature, Abnormality of the musculature
RS2114627220	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2114627508	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114670709	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114697790	Health Risk	Likely pathogenic	See cases, Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2114761115	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114770006	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114788484	Health Risk	Likely pathogenic	Abnormality of the musculature, LAMA2-related muscular dystrophy, Abnormality of the musculature
RS2114788785	Health Risk	Likely pathogenic	Abnormality of the musculature, Abnormality of the musculature
RS2114794775	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2114795375	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2114834489	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2114834553	Health Risk	Likely pathogenic	Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2114901040	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2114947621	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2115037261	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482118024	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482129454	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482129645	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482129863	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482130041	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482165302	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2482165307	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482194191	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482194892	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2482210063	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482210497	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS2482237307	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2482237317	Health Risk	Likely pathogenic	—

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