ClinGen Gene Validity Curations
Gene: LAMB1

LAMB1 (laminin subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 10 panels

1 review

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Source: ClinGen Gene Validity Classification Summary. Determined as MODERATE by calculated classification (dated: ) and 11/03/2016 by Expert curation (dated 11/15/2016). Available here: https://search.clinicalgenome.org/kb/gene-validity/5461.
Created: 20 Jun 2017, 3:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 23 Jun 2017, 11:51 a.m.

Panel version: 0.58

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

ClinGen
Expert Review Amber
Other

Phenotypes

Lissencephaly 5
OrphaNet: 352682
OMIM:615191

OMIM

150240

Clinvar variants

Variants in LAMB1

Penetrance

Complete

Publications

Panels with this gene