Congenital muscular dystrophy

Gene: LAMA2

Green List (high evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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)

Green List (high evidence)

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)

Green List (high evidence)

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
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
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
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LAMA2 were changed from to 12552556; 7550355

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAMA2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to LAMA2. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

24 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

19 Dec 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene LAMA2 was changed to BIALLELIC, autosomal or pseudoautosomal

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMA2 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen