Adult onset neurodegenerative disorder

Gene: LAMB1

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.

Panel Version: 3.49

Green List (high evidence)

Comment on classification: Sufficient evidence to promote this gene to Green at the next GMS panel update. >3 unrelated cases including relevant phenotype (lissencephaly).

This gene has been associated with relevant phenotypes in both OMIM and G2P. OMIM records that onset of this disorder is in the first decade (range infancy to later childhood).

Created: 4 Jan 2023, 10:33 p.m. | Last Modified: 4 Jan 2023, 10:33 p.m.

Panel Version: 3.28

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lissencephaly 5, OMIM:615191

Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cerebral small vessel disease, with leukoencephalopathy and hippocampal memory impairment. Evidence: PMID:34606115: A significant over-representation of truncating (non-NMD) LAMB1 variants in CSVD pateints vs. controls. Four familes with 3 different frameshifts variants that escape NMD presented.

Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.

Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cerebral small vessel disease, with leukoencephalopathy and hippocampal memory impairment

Publications

• 34606115