| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Adult onset dystonia, chorea or related movement disorder v1.166 | PPP2R5D | Ivone Leong Tag Q2_21_phenotype was removed from gene: PPP2R5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.166 | PPP2R5D | Sarah Leigh commented on gene: PPP2R5D: The rating of this gene has been updated followingNHS Genomic Medicine Serviceapproval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.165 | PPP2R5D |
Ivone Leong Source Expert Review Green was added to PPP2R5D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.20 | PPP2R5D | Sarah Leigh Phenotypes for gene: PPP2R5D were changed from Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 to Mental retardation, autosomal dominant 35 OMIM:616355; intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.19 | PPP2R5D | Sarah Leigh changed review comment from: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (three cases)).; to: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (four cases)). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.19 | PPP2R5D | Sarah Leigh edited their review of gene: PPP2R5D: Added comment: Associated with OMIM 616355 and as confirmed Gen2Phen gene for intellectual disability. Early-onset Parkinsonism has recently been associated with two PPP2R5D variants in four unrelated cases (NM_006245.3: c.592G > A, p.Glu198Lys (one case) c.598G>A, p.Glu200Lys (three cases)).; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.19 | PPP2R5D | Sarah Leigh Classified gene: PPP2R5D as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.19 | PPP2R5D | 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 dystonia, chorea or related movement disorder v1.19 | PPP2R5D | Sarah Leigh Gene: ppp2r5d has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.18 | PPP2R5D | Sarah Leigh Tag Q2_21_phenotype tag was added to gene: PPP2R5D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.18 | PPP2R5D | Sarah Leigh Publications for gene: PPP2R5D were set to 33338668; 32743835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v1.16 | PPP2R5D |
Zornitza Stark gene: PPP2R5D was added gene: PPP2R5D was added to Adult onset movement disorder. Sources: Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to 33338668; 32743835 Phenotypes for gene: PPP2R5D were set to Early onset Parkinsonism; Mental retardation, autosomal dominant 35, MIM# 616355 Review for gene: PPP2R5D was set to GREEN Added comment: 5 individuals reported with de novo missense variants in this gene, a neurodevelopmental disorder, and onset of parkinsonism between the ages of 20-40 years. Four had the same p.(Glu200Lys) variant, and the fifth had p.(Glu198Lys) Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||