 |
LAMA2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- LAMA2 (HGNC:6482) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- laminin subunit alpha 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- LAMM
- Alias symbols
- No aliases found
- %HI
- 4.68(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.8(Read more about gnomAD LOEUF score)
- Cytoband
- 6q22.33
- Genomic Coordinates
-
GRCh37/hg19: chr6:129204283-129837711 NCBI Ensembl UCSC GRCh38/hg38: chr6:128883138-129516566 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000426.4 ENST00000421865.3 (Read more about MANE Select)
- Function
- Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31669
ClinGen Curation ID:
CCID:007386
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/28/2018
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- LAMA2-related muscular dystrophy Monarch
HI Evidence 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 (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)
