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Genetic Epilepsy

Gene: LAMA2

Green List (high evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Epilepsy is a common, often severe, feature of LAMA2-related muscular dystrophy (LAMA2-RD) and could represent its onset and main manifestation, even in the absence of overt muscle involvement, reviewed in PMID 34325301.
Sources: Literature
Created: 25 Sep 2021, 1:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama2 has been classified as Green List (High Evidence).

25 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama2 has been classified as Green List (High Evidence).

25 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama2 has been classified as Red List (Low Evidence).

25 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA2 was added gene: LAMA2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 33333793; 34325301 Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23 , MIM#618138 Review for gene: LAMA2 was set to GREEN