Limb girdle 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 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:56 p.m. | Last Modified: 28 Nov 2019, 4:56 p.m.
Panel Version: 1.147
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 4:55 p.m. | Last Modified: 28 Nov 2019, 4:55 p.m.
Panel Version: 1.146

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Form of congenital muscular dystrophy, now listed on new LGMD classification as LGMDR23
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital muscular dystrophy, merosin deficient or partially deficient

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
  • congenital muscular dystroph
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lama2 has been classified as Green List (High Evidence).

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: LAMA2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: lama2 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAMA2.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to LAMA2.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; congenital muscular dystroph

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene LAMA2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 for gene: LAMA2 Publications for gene LAMA2 were changed from to 12552556; 7550355

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LAMA2 was added gene: LAMA2 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: LAMA2 was set to