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  3. LAMB1
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White matter disorders and cerebral calcification - narrow panel

Gene: LAMB1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

LAMB1 was reassessed in view of an Amber review by Zornitza Stark. Literature search revealed white matter abnormalities in at least 4 unrelated families with biallelic variants in this gene (PMID: 23472759; 25925986; 29888467). Therefore, maintaining a Green gene rating on this panel is appropriate.
Created: 7 Jun 2021, 10:59 a.m. | Last Modified: 7 Jun 2021, 10:59 a.m.
Panel Version: 1.145

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 7 Jun 2021, 10:59 a.m.
Last Modified: 7 Jun 2021, 10:59 a.m.
Panel version: 1.145

Zornitza Stark (Australian Genomics)

I don't know

Gene is associated primarily with cortical malformations, however note two unrelated families reported with cystic leukoencephalopathy and bi-allelic variants in this gene. Also note adult-onset leukodystrophy reported in one individual.
Created: 6 Jul 2020, 7:39 a.m. | Last Modified: 6 Jul 2020, 7:39 a.m.
Panel Version: 1.14

Phenotypes
Cystic leukoencephalopathy

Publications

Created: 6 Jul 2020, 7:39 a.m.
Last Modified: 6 Jul 2020, 7:39 a.m.
Panel version: 1.14

History Filter Activity

7 Jun 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

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

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; Cystic leukoencephalopathy

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: LAMB1 was added gene: LAMB1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 25925986; 17525174; 23472759 Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191