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| 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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| Early-onset Parkinson disease v0.335 | SPR | Bryony Thompson Marked gene: SPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.335 | SPR | Bryony Thompson Gene: spr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.335 | SPR | Bryony Thompson Phenotypes for gene: SPR were changed from to Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.334 | SPR | Bryony Thompson Publications for gene: SPR were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.333 | SPR | Bryony Thompson Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.264 | SPR | Claire Fryer-Smith reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: None; Publications: 22522443, 11920285, 14663042, 16443856, 21782285, 32813147; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency (MIM# 612716); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.0 | SPR |
Zornitza Stark gene: SPR was added gene: SPR was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SPR was set to Unknown |
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