Leukodystrophy - adult onset
Gene: LAMB1EnsemblGeneIds (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 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
Lucy Spencer (Victorian Clinical Genetics Services)
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
- PMID: 34606115
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Seb Lunke (Victorian Clinical Genetics Services)
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
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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Cobblestone Malformations
- Leukodystrophy - paediatric
- Fetal anomalies
- Prepair 1000+
- Lissencephaly and Band Heterotopia
- Mendeliome
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Callosome
- Hydrocephalus_Ventriculomegaly
History Filter Activity
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
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lamb1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: lamb1 has been classified as Green List (High Evidence).
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
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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LAMB1 were set to
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: lamb1 has been classified as Red List (Low Evidence).
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