Leukodystrophy - adult onset

Gene: LAMB1

Green List (high evidence)

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

4 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Comment on mode of inheritance: Monoallelic mode of inheritance for adult-onset disease
Created: 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 disease
Created: 3 Dec 2021, 3:52 a.m. | Last Modified: 3 Dec 2021, 3:52 a.m.
Panel Version: 0.93

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

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: Literature
Created: 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Leukodystrophy, MONDO:0019046, LAMB1-related
  • Retinal Vascular Abnormality
  • mild intellectual disability
  • white matter lesions
  • lower limb spasticity
OMIM
150240
Clinvar variants
Variants in LAMB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lamb1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: lamb1 has been classified as Green List (High Evidence).

3 Dec 2021, Gel status: 1

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LAMB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Dec 2021, Gel status: 1

Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMB1 were set to

6 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: lamb1 has been classified as Red List (Low Evidence).

6 Jul 2020, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

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