Activity
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5 actions
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| DDG2P v6.8 | PDE1B | Arina Puzriakova Tag curated_removed tag was added to gene: PDE1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.4 | PDE1B | Arina Puzriakova Classified gene: PDE1B as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.4 | PDE1B |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype (G2P) on their DDG2P panel. PDE1B is currently not associated with any disease models in G2P and therefore the grey rating will be maintained on this panel at this time. PDE1B has already been curated on other GMS panels with a green recommendation (Childhood onset dystonia, chorea or related movement disorder and Ataxia and cerebellar anomalies) to capture the evidence and ensure inclusion of this gene in the NHS GMS. |
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| DDG2P v6.4 | PDE1B | Arina Puzriakova Gene: pde1b has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.1 | PDE1B |
Sarah Dixon gene: PDE1B was added gene: PDE1B was added to DDG2P. 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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