| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.47 | DAGLB | Zornitza Stark Marked gene: DAGLB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.47 | DAGLB | Zornitza Stark Gene: daglb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.47 | DAGLB | Zornitza Stark Phenotypes for gene: DAGLB were changed from to Parkinson disease, MONDO:0005180, DALGB-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.46 | DAGLB | Zornitza Stark edited their review of gene: DAGLB: Changed phenotypes: Parkinson disease, MONDO:0005180, DALGB-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.46 | DAGLB | Zornitza Stark Classified gene: DAGLB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.46 | DAGLB | Zornitza Stark Gene: daglb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v2.45 | DAGLB |
Zornitza Stark gene: DAGLB was added gene: DAGLB was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAGLB were set to 35715418; 40244389 Review for gene: DAGLB was set to GREEN Added comment: PMID 35715418 reports 6 individuals from 4 families and PMID 40244389 reports 3 individuals from 3 families, together comprising 9 individuals from 7 unrelated families with biallelic loss-of-function DAGLB variants causing early‑onset Parkinsonism (onset 27‑52 years) characterized by resting tremor, bradykinesia, rigidity, postural instability and good levodopa response. Functional studies (Western blot loss of DAGLB protein, CRISPR‑SaCas9 knock‑down in mouse nigral dopaminergic neurons reducing 2‑AG levels, and rescue of motor deficits by MAGL inhibition) support loss‑of‑function as the disease mechanism. Sources: Literature |
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