Leukodystrophy - adult onset
Gene: LAMB1Comment on mode of inheritance: Monoallelic mode of inheritance for adult-onset diseaseCreated: 3 Dec 2021, 3:52 a.m. | Last Modified: 3 Dec 2021, 3:52 a.m.
Panel Version: 0.93
Comment on mode of inheritance: Monoallelic mode of inheritance for adult-onset diseaseCreated: 3 Dec 2021, 3:52 a.m. | Last Modified: 3 Dec 2021, 3:52 a.m.
Panel Version: 0.93
LAMB1 variants found in 5 families with cerebral small vessel disease. 4 are truncating frameshifts (and 2 of the families have the same frameshift), 1 is a canonical splice. All families had adult onset of symptoms ranging from 20-63yo. All have white matter hypersignals. ‘These variants are associated with a novel phenotype characterized by the association of a hippocampal type episodic memory defect and a diffuse vascular leukoencephalopathy.’
All variants in this paper were heterozygous but the previous review has a 1 patient with a homozygous missense variant.Created: 3 Dec 2021, 3:18 a.m. | Last Modified: 3 Dec 2021, 3:18 a.m.
Panel Version: 0.92
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
leukoencephalopathy
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Single adult female patient with onset of symptoms after 22yrs of age. Novel homozygous missense variant in a distantly related family identified in exome sequencing, no further evidence of pathogenicity.
Sources: LiteratureCreated: 6 Jul 2020, 6:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity
Phenotypes for gene: LAMB1 were changed from Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity to Leukodystrophy, MONDO:0019046, LAMB1-related; Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity
Gene: lamb1 has been classified as Green List (High Evidence).
Gene: lamb1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: LAMB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LAMB1 were set to
Gene: lamb1 has been classified as Red List (Low Evidence).
gene: LAMB1 was added gene: LAMB1 was added to Leukodystrophy - adult onset. Sources: Literature Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LAMB1 were set to Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity Review for gene: LAMB1 was set to RED