ClinGen Dosage Sensitivity Curation Page

LAMA2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)
  • Haploinsufficiency score: Gene associated with autosomal recessive phenotype
  • Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype

Haploinsufficiency phenotype comments:

Homozygous/ compound heterozygous variants in the LAMA2 gene have been implicated as the cause for a severe early onset congenital muscular dystrophy . Homozygous and compound heterozygous variants in LAMA2 have also been described in patients with a milder phenotype later onset limb-girdle type muscular dystrophy.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity