Arthrogryposis
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)
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
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
-
- 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).
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
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 Arthrogryposis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LAMA2 was set to Unknown