| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Early-onset Parkinson disease v2.1 | RAB32 |
Bryony Thompson changed review comment from: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls). The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. Sources: Literature; to: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls). The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. The variant is reported as a novel reduced penetrance PD risk factor. The 95% CI for the OR estimate are very wide. A confirmatory study is required for this variant. Sources: Literature |
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| Early-onset Parkinson disease v2.1 | RAB32 |
Bryony Thompson gene: RAB32 was added gene: RAB32 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB32 were set to 38614108 Phenotypes for gene: RAB32 were set to Parkinson disease MONDO:0005180 Mode of pathogenicity for gene: RAB32 was set to Other Review for gene: RAB32 was set to AMBER Added comment: A single variant in RAB32 - c.213C>G p.(Ser71Arg) with a significant association with PD (odds ratio [OR] 13.17, 95% CI 2.15-87.23; p=0.0055, 6,043 PD cases and 62,549 controls). The variant cosegregated with autosomal dominant PD in 3 families (9 affected individuals), with incomplete penetrance. In vitro studies demonstrate that RAB32 Ser71Arg activates LRRK2 kinase. Sources: Literature |
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| Early-onset Parkinson disease v0.296 | LRRK2 | Zornitza Stark Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.295 | LRRK2 | Sangavi Sivagnanasundram reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 1626954, https://search.clinicalgenome.org/CCID:005305; Phenotypes: Parkinson disease (MONDO:0005180); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.243 | LRRK2 | Kaitlyn Dianna Weldon reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301387; Phenotypes: autosomal dominant Parkinson disease 8 MONDO:0011764, obsolete hereditary late onset Parkinson disease MONDO:0018466, Parkinson disease MONDO:0005180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.0 | LRRK2 |
Zornitza Stark gene: LRRK2 was added gene: LRRK2 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: LRRK2 was set to Unknown |
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