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  3. LAMB1
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Leukodystrophy - paediatric

Gene: LAMB1

Amber List (moderate evidence)
LAMB1 (laminin subunit beta 1)
EnsemblGeneIds (GRCh38): ENSG00000091136
EnsemblGeneIds (GRCh37): ENSG00000091136
OMIM: 150240, Gene2Phenotype
LAMB1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated families reported with cystic leukoencephalopathy and bi-allelic variants in this gene. Also note adult-onset leukodystrophy reported in one individual.
Sources: Literature
Created: 6 Jul 2020, 6:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cystic leukoencephalopathy

Publications

Created: 6 Jul 2020, 6:15 a.m.

Panel version: 0.167

History Filter Activity

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb1 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lamb1 has been classified as Amber List (Moderate Evidence).

6 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LAMB1 was added gene: LAMB1 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMB1 were set to 29888467; 25925986 Phenotypes for gene: LAMB1 were set to Cystic leukoencephalopathy Review for gene: LAMB1 was set to AMBER