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  3. LAMA2
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Molecular autopsy

Gene: LAMA2

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

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, LAMA2-related
  • Muscular dystrophy, congenital merosin-deficient, 607855
  • Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to LAMA2.

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LAMA2 was added gene: LAMA2 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855