Congenital muscular dystrophy
Gene: LAMA2
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.
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
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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855
Source was removed from LAMA2.
Phenotypes for gene: LAMA2 were changed from Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855; Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
Publications for gene LAMA2 were changed from to 12552556; 7550355
Source NHS GMS was added to LAMA2.
Source London South GLH was added to LAMA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for LAMA2 were set to Congenital Muscular Dystrophy, LAMA2-related; Muscular dystrophy, congenital merosin-deficient, 607855;Muscular dystrophy, congenital, due to partial LAMA2 deficiency 607855
LAMA2 was added to Congenital muscular dystrophypanel. Source:
Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal
LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal
LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal
LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen