Cobblestone Malformations
Gene: LAMA2EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Variants in this gene are associated with a range of cortical malformations in addition to the muscle phenotype. Four individuals reported with cobblestone malformations, though note in one individual MRI was normal and the abnormalities were identified on autopsy.
Sources: LiteratureCreated: 17 Jan 2021, 9:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- 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
-
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lama2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LAMA2 was added gene: LAMA2 was added to Cobblestone Malformations. Sources: Literature Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA2 were set to 32827036 Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Review for gene: LAMA2 was set to GREEN