Muscular dystrophy and myopathy_Paediatric

Gene: LAMA2

Green List (high evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Recent review of 86 individuals. Phenotype varies in severity, likely represents a single disorder rather than distinct entities. The majority of individuals have a congenital muscular dystrophy (CMD) phenotype classified as type 1A (MDC1A; MIM# 607855). The classical phenotype manifests as neonatal hypotonia or muscle weakness during the first months of life and reduced spontaneous movements. As muscle weakness persists during development, it compromises the achievement of normal motor milestones (no cephalic control or inability to sit unsupported) and frequently gives rise to failure to thrive. Other manifestations such as gastroesophageal reflux, aspiration, recurrent chest infections, and even respiratory failure are reported. Facial muscle weakness, ophthalmoparesis, and macroglossia are also features present in these patients but are often beyond early childhood. Other relevant clinical hallmarks of MDC1A include elevated creatine kinase (CK) levels and dystrophic changes (necrosis and regeneration of fibers, chronic inflammation, and fibrosis) recognizable in muscle biopsies of these patients. Structural brain abnormalities, seizures, and intellectual disability reported. Also note reports of late‐onset LAMA2‐MD patients, mainly characterised by proximal muscle weakness with onset during childhood, delayed motor milestones, achievement of independent ambulation, and persistently elevated CK levels.
Created: 27 Aug 2020, 11:43 p.m. | Last Modified: 27 Aug 2020, 11:43 p.m.
Panel Version: 0.63

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138

27 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA2 were set to

27 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA2 was added gene: LAMA2 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA2 was set to Unknown