Inherited white matter disorders
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)

Comment on list classification: Promoted to green after feedback from Arianna Tucci. 3 unrelated families with mutations reported in PMIDs. This is green on the Malformations of cortical development v1.116 and Hydrocephalus v1.2 gene panels.
Created: 25 Jul 2017, 3 p.m.

Created: 25 Jul 2017, 2:59 p.m.

Panel version: 1.7

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Lissencephaly 5, OMIM:615191
cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077

OMIM

150240

Clinvar variants

Variants in LAMB1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

5 Jan 2023, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: LAMB1 were set to 23472759; 25925986; 29888467

5 Jan 2023, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, OMIM:615191 to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077

7 Jun 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: LAMB1 were set to 23472759; 17525174; 25925986

7 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 to Lissencephaly 5, OMIM:615191

25 Jul 2017, Gel status: 4