Activity

Filter

Cancel
Date Panel Item Activity
21 actions
Adult onset leukodystrophy v2.46 LAMB1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: LAMB1.
Tag Q1_23_MOI was removed from gene: LAMB1.
Tag Q1_23_NHS_review was removed from gene: LAMB1.
Adult onset leukodystrophy v2.46 LAMB1 Sarah Leigh commented on gene: LAMB1: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v2.45 LAMB1 Sarah Leigh Source Expert Review Green was added to LAMB1.
Source NHS GMS was added to LAMB1.
Mode of inheritance for gene LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v2.44 LAMB1 Sarah Leigh edited their review of gene: LAMB1: Added comment: PMID: 34606115 reports heterozygous end-truncated LAMB1 in a hippocampal memory defect and a leukoencephalopathy. Other publications (PMID: 32548278; 25925986;23472759;29888467),
OMIM (https://www.omim.org/entry/150240?search=LAMB1&highlight=lamb1#geneMap), Gen2Phen (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=1439) and ClinGen (https://search.clinicalgenome.org/kb/genes/HGNC:6486) all report the a bialleic mode inheritance between LAMB1 variants and disease. Based on this discrepancy, the suggested mode of inheritance has been changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v2.44 LAMB1 Sarah Leigh Tag Q1_23_MOI tag was added to gene: LAMB1.
Adult onset leukodystrophy v2.40 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278; 34606115; 23472759; 25925986
Adult onset leukodystrophy v2.39 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278; 34606115
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh edited their review of gene: LAMB1: Added comment: Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least four variants have been reported in three unrelated cases of Lissencephaly 5, (OMIM:615191).; Changed rating: GREEN
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Classified gene: LAMB1 as Amber List (moderate evidence)
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Adult onset leukodystrophy v2.38 LAMB1 Sarah Leigh Gene: lamb1 has been classified as Amber List (Moderate Evidence).
Adult onset leukodystrophy v2.37 LAMB1 Sarah Leigh Tag Q1_23_promote_green tag was added to gene: LAMB1.
Tag Q1_23_NHS_review tag was added to gene: LAMB1.
Adult onset leukodystrophy v2.37 LAMB1 Sarah Leigh Phenotypes for gene: LAMB1 were changed from Retinal Vascular Abnormality; mild intellectual disability; white matter lesions; lower limb spasticity to Lissencephaly 5, OMIM:615191; cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
Adult onset leukodystrophy v2.36 LAMB1 Sarah Leigh Publications for gene: LAMB1 were set to 32548278
Adult onset leukodystrophy v2.3 LAMB1 Eleanor Williams reviewed gene: LAMB1: Rating: ; Mode of pathogenicity: ; Publications: 34606115; Phenotypes: Cerebral small vessel disease, with leukoencephalopathy and hippocampal memory impairment; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v1.36 LAMB1 Zornitza Stark changed review comment from: Mono-allelic LAMB1 variants reported 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 has white matter hyper intensity on imaging.; to: New MOI

Mono-allelic LAMB1 variants reported 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 has white matter hyper intensity on imaging.
Adult onset leukodystrophy v1.36 LAMB1 Zornitza Stark edited their review of gene: LAMB1: Added comment: Mono-allelic LAMB1 variants reported 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 has white matter hyper intensity on imaging.; Changed rating: GREEN; Changed publications to: 32548278, 34606115; Changed phenotypes to: Adult-onset leukodystrophy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Classified gene: LAMB1 as Red List (low evidence)
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Added comment: Comment on list classification: Rating Red as currently only a single adult-onset case of leukoencephalopathy reported (PMID: 32548278). Additional cases required prior to inclusion on this panel. All other publications to date report congenital or infantile- to childhood-onset leukoencephalopathy.
Adult onset leukodystrophy v1.12 LAMB1 Arina Puzriakova Gene: lamb1 has been classified as Red List (Low Evidence).
Adult onset leukodystrophy v1.4 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to White matter disorders - adult onset. Sources: Literature
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB1 were set to 32548278
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
Added comment: Single adult female patient with onset of symptoms after 22yrs of age reported with novel homozygous missense variant (parents distantly related family), no further evidence of pathogenicity, however note two reports of cystic leukodystrophy in paediatric patients.
Sources: Literature