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  3. LAMA2
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Fetal anomalies

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

2 reviews

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. Arthrogryposis/joint contractures reported.
Created: 27 Aug 2020, 11:46 p.m. | Last Modified: 27 Aug 2020, 11:46 p.m.
Panel Version: 0.204

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

Created: 27 Aug 2020, 11:46 p.m.
Last Modified: 27 Aug 2020, 11:46 p.m.
Panel version: Imported from Arthrogryposis panel version 0.204

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
1) Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 AR 2); Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 AR; 3 LAMA2-related muscular dystrophy (suggested by PMID: 30055037)

Publications

Created: 31 Jan 2020, 3:15 a.m.
Last Modified: 31 Jan 2020, 3:15 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.1805

Details

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

History Filter Activity

13 Jan 2022, 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).

13 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA2 were changed from CONGENITAL MUSCULAR DYSTROPHY to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855

13 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA2 were set to

24 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMA2 was added gene: LAMA2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMA2 were set to CONGENITAL MUSCULAR DYSTROPHY