Activity
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12 actions
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| Ataxia and cerebellar anomalies - narrow panel v8.72 | PDE1B | Ida Ertmanska Tag gene-checked tag was added to gene: PDE1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.67 | PDE1B |
Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PDE1B. Tag Q3_25_NHS_review was removed from gene: PDE1B. |
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| Ataxia and cerebellar anomalies - narrow panel v8.67 | PDE1B | Achchuthan Shanmugasundram commented on gene: PDE1B: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.65 | PDE1B |
Achchuthan Shanmugasundram Source NHS GMS was added to PDE1B. Source Expert Review Green was added to PDE1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ataxia and cerebellar anomalies - narrow panel v8.12 | PDE1B | Achchuthan Shanmugasundram Classified gene: PDE1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.12 | PDE1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Ataxia has been reported in four unrelated families and hence this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.12 | PDE1B | Achchuthan Shanmugasundram Gene: pde1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.11 | PDE1B |
Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PDE1B. Tag Q3_25_NHS_review tag was added to gene: PDE1B. |
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| Ataxia and cerebellar anomalies - narrow panel v8.11 | PDE1B | Achchuthan Shanmugasundram Phenotypes for gene: PDE1B were changed from hypotonia; ataxia; dystonia; developmental delay; intellectual disability to movement disorder, MONDO:0005395 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.10 | PDE1B | Achchuthan Shanmugasundram Publications for gene: PDE1B were set to PMID: 40492975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.9 | PDE1B | Achchuthan Shanmugasundram reviewed gene: PDE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 40492975; Phenotypes: movement disorder, MONDO:0005395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.4 | PDE1B |
Sarah Dixon gene: PDE1B was added gene: PDE1B was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature Mode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE1B were set to PMID: 40492975 Phenotypes for gene: PDE1B were set to hypotonia; ataxia; dystonia; developmental delay; intellectual disability Penetrance for gene: PDE1B were set to unknown Review for gene: PDE1B was set to GREEN Added comment: PMID: 40492975 Biallelic LOF variants in PDE1B identified in seven individuals from five different families Disorder characterized by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with developmental delay and intellectual disability Sources: Literature |
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