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  3. LAMB1
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Cobblestone Malformations

Gene: LAMB1

Green List (high evidence)
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)

Variants in this gene are associated with a range of brain phenotypes, but three families reported with cobblestone lissencephaly, without muscular or ocular findings.
Sources: Expert Review
Created: 17 Jan 2021, 9:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 5, MIM# 615191

Publications

Created: 17 Jan 2021, 9:02 p.m.

Panel version: 0.14

History Filter Activity

17 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb1 has been classified as Green List (High Evidence).

17 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb1 has been classified as Green List (High Evidence).

17 Jan 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMB1 was added gene: LAMB1 was added to Cobblestone Malformations. Sources: Expert Review Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 23472759; 25925986 Phenotypes for gene: LAMB1 were set to Lissencephaly 5, MIM# 615191 Review for gene: LAMB1 was set to GREEN