White matter disorders and cerebral calcification - narrow panel
Gene: LAMB1
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
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
Publications for gene: LAMB1 were set to 25925986; 17525174; 23472759
Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, 615191 to Lissencephaly 5, OMIM:615191; Cystic leukoencephalopathy
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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