Adult onset neurodegenerative disorder
Gene: LAMB1
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
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
Tag Q1_23_promote_green was removed from gene: LAMB1.
Source NHS GMS was added to LAMB1. Source Expert Review Green was added to LAMB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: LAMB1 were set to 32548278; 34606115
Publications for gene: LAMB1 were set to
Phenotypes for gene: LAMB1 were changed from Lissencephaly 5, OMIM:615191 to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Tag Q1_23_promote_green tag was added to gene: LAMB1.
Phenotypes for gene: LAMB1 were changed from to Lissencephaly 5, OMIM:615191
Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: LAMB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: lamb1 has been classified as Amber List (Moderate Evidence).
gene: LAMB1 was added gene: LAMB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: LAMB1 was set to