Inherited white matter disorders

Gene: LAMB1

Green List (high evidence)

LAMB1 (laminin subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 11 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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Lissencephaly 5, 615191
OMIM
150240
Clinvar variants
Variants in LAMB1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 Jul 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB1 were set to 23472759; 17525174; 25925986

25 Jul 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for LAMB1 were set to 23472759;17525174

25 Jul 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for LAMB1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.

5 Apr 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LAMB1 was added to Inherited white matter disorderspanel. Sources: Radboud University Medical Center, Nijmegen

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

LAMB1 was created by ellenmcdonagh