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
RS752812435	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS757435241	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Muscular dystrophy
RS759055212	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS759727498	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS760169730	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS761456598	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS764625508	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS765592025	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS765714277	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS766296358	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS767784355	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS767799742	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS774208594	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS778539477	Health Risk	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23
RS779116918	Health Risk	Likely pathogenic	Muscular dystrophy, limb-girdle, autosomal recessive 23
RS779834223	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS780496890	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS781316719	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS781772588	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS786204779	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS886039896	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Abnormality of the musculature, Merosin deficient congenital muscular dystrophy
RS897845923	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS917205971	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS944013929	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS945091158	Health Risk	Likely pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Muscular dystrophy
RS968447029	Health Risk	Likely pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1018100729	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, LAMA2-related disorder
RS1051753046	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1064797327	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1156538773	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1180309541	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1185229314	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Muscular dystrophy
RS1186050632	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1205783002	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1209130981	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, Inborn genetic diseases, Merosin deficient congenital muscular dystrophy
RS1211322465	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1211886873	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1218997631	Health Risk	Pathogenic	—
RS121913569	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Qualitative or quantitative defects of merosin
RS121913572	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle
RS121913575	Health Risk	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS121913576	Health Risk	Pathogenic	Congenital muscular dystrophy due to partial LAMA2 deficiency, Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS121913577	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1231277831	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1248727589	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1253505269	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1258407314	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1271214101	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1276312596	Health Risk	Pathogenic	LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1276391947	Health Risk	Pathogenic	Merosin deficient congenital muscular dystrophy, Muscular dystrophy, limb-girdle

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