Polymicrogyria and Schizencephaly
Gene: LAMC3EnsemblGeneIds (GRCh38): ENSG00000050555
EnsemblGeneIds (GRCh37): ENSG00000050555
OMIM: 604349, Gene2Phenotype
LAMC3 is in 8 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
>3 unrelated families reportedCreated: 25 Mar 2022, 3:02 a.m. | Last Modified: 25 Mar 2022, 3:02 a.m.
Panel Version: 0.172
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cortical malformations, occipital, MIM#614115
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
-
- Cortical malformations, occipital, MIM#614115
- OMIM
- 604349
- Clinvar variants
- Variants in LAMC3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lamc3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LAMC3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: LAMC3 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: LAMC3 was added gene: LAMC3 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LAMC3 was set to Unknown