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Intellectual_disability

Gene: LAMA2

Red List (low evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 8 panels

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Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen