Lissencephaly and Band Heterotopia
Gene: LAMB1

LAMB1 (laminin subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Lissencephaly-5 is an autosomal recessive brain malformation characterized by cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia. Affected individuals have hydrocephalus, seizures, and severely delayed psychomotor development. At least three unrelated families reported.
Created: 29 Aug 2020, 3:16 a.m. | Last Modified: 29 Aug 2020, 3:16 a.m.

Panel Version: 0.96

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 5, MIM# 615191

Publications

Created: 29 Aug 2020, 3:16 a.m.
Last Modified: 29 Aug 2020, 3:16 a.m.
Panel version: 0.96

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Brain Malformations Flagship

Phenotypes

Lissencephaly 5, MIM# 615191

OMIM

150240

Clinvar variants

Variants in LAMB1

Penetrance

None

Publications

Panels with this gene