ClinGen Gene Validity Curations

Gene: LAMB1

Amber List (moderate evidence)

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

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

History Filter Activity

20 Jun 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen

20 Jun 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB1 were set to 23472759; 17525174

20 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

20 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMB1 was created by ellenmcdonagh

20 Jun 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB1 was added to ClinGen Gene Validity Curationspanel. Sources: Other