Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Genetic Epilepsy v0.1206 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Genetic Epilepsy v0.1206 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1205 LAMA2 Zornitza Stark Classified gene: LAMA2 as Green List (high evidence)
Genetic Epilepsy v0.1205 LAMA2 Zornitza Stark Gene: lama2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1204 LAMA2 Zornitza Stark Marked gene: LAMA2 as ready
Genetic Epilepsy v0.1204 LAMA2 Zornitza Stark Gene: lama2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v0.1204 LAMA2 Zornitza Stark 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
Added comment: 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