Lissencephaly and Band Heterotopia
Gene: LAMA2EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Lauren Akesson (Royal Melbourne Hospital)
Malformations of cortical development are seen in a small proportion of individuals with biallelic LAMA2 variants. These were initially described and characterised based on immunohistochemistry showing loss of the protein associated with LAMA2. Reports where genotyping has been performed include:
PMID: 20207543 – 7 individuals with biallelic LAMA2 variants and occipital agyria / polymicrogyria with a further 2 individuals with cortical folding abnormalities in other sites.
PMID: 18406646 – 1 individual with a homozygous nonsense LAMA2 variant with extensive bilateral occipital polymicrogyria.Created: 22 May 2020, 6:09 a.m. | Last Modified: 22 May 2020, 6:09 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LAMA2-related muscular dystrophy
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Brain Malformations Flagship
- Phenotypes
-
- LAMA2-related muscular dystrophy
- Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
- OMIM
- 156225
- Clinvar variants
- Variants in LAMA2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Muscular dystrophy and myopathy_Paediatric
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Cobblestone Malformations
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Lissencephaly and Band Heterotopia
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LAMA2 were changed from LAMA2-related muscular dystrophy to LAMA2-related muscular dystrophy; Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LAMA2 were changed from to LAMA2-related muscular dystrophy
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LAMA2 were set to
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
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 Lissencephaly and band heterotopia_AGHA_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LAMA2 was set to Unknown