Activity
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12 actions
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| Adult onset neurodegenerative disorder v7.8 | RAB32 | Arina Puzriakova Tag Q3_24_promote_green was removed from gene: RAB32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.8 | RAB32 | Arina Puzriakova reviewed gene: RAB32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.6 | RAB32 |
Arina Puzriakova Source NHS GMS was added to RAB32. Source Expert Review Green was added to RAB32. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Adult onset neurodegenerative disorder v7.5 | RAB32 | Achchuthan Shanmugasundram Classified gene: RAB32 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.5 | RAB32 | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although all reported cases were identified with the same p.Ser71Arg variant, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.5 | RAB32 | Achchuthan Shanmugasundram Gene: rab32 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.4 | RAB32 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #620923). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.4 | RAB32 | Achchuthan Shanmugasundram Phenotypes for gene: RAB32 were changed from Parkinson’s disease to {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.3 | RAB32 | Achchuthan Shanmugasundram Publications for gene: RAB32 were set to PMID: 38858457 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.2 | RAB32 | Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAB32. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v7.2 | RAB32 | Achchuthan Shanmugasundram reviewed gene: RAB32: Rating: GREEN; Mode of pathogenicity: None; Publications: 38614108, 38858457; Phenotypes: {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset neurodegenerative disorder v5.7 | RAB32 |
Dmitrijs Rots gene: RAB32 was added gene: RAB32 was added to Adult onset neurodegenerative disorder. Sources: Literature Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAB32 were set to PMID: 38858457 Phenotypes for gene: RAB32 were set to Parkinson’s disease Mode of pathogenicity for gene: RAB32 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAB32 was set to GREEN Added comment: The PMID: 38858457 paper describes: "Exome-wide analyses converged on RAB32 as a novel PD gene identifying c.213C > G/p.S71R as a high-risk variant presenting in ~0.7% of familial PD cases while observed in only 0.004% of controls (odds ratio of 65.5). This variant was confirmed in all cases via Sanger sequencing and segregated with PD in three families." + functional data. Enough evidence for the green rating. Sources: Literature |
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