Congenital muscular dystrophy and congenital myopathy
Gene: LAMA2EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 8 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Rachael Mein (Viapath at Guy's Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Green review and >3 cass/families reported for different variants. Confirmed DD gene for CONGENITAL MUSCULAR DYSTROPHY.Created: 24 Jan 2017, 4:29 p.m.
Emma Clement (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
- OMIM
- 156225
- Clinvar variants
- Variants in LAMA2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: LAMA2 was added gene: LAMA2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 12552556; 7550355 Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855 Penetrance for gene: LAMA2 were set to Complete