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| Childhood onset dystonia, chorea or related movement disorder v7.3 | PDE1B | Achchuthan Shanmugasundram Classified gene: PDE1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.3 | PDE1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families reported with childhood onset dystonia. Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.3 | PDE1B | Achchuthan Shanmugasundram Gene: pde1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.2 | PDE1B | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PDE1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood onset dystonia, chorea or related movement disorder v7.2 | PDE1B |
Achchuthan Shanmugasundram gene: PDE1B was added gene: PDE1B was added to Childhood onset dystonia, chorea or related movement disorder. Sources: Literature Mode of inheritance for gene: PDE1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE1B were set to 40492975 Phenotypes for gene: PDE1B were set to movement disorder, MONDO:0005395 Review for gene: PDE1B was set to GREEN Added comment: As reviewed by Sarah Dixon, PMID:40492975 reported seven individuals from five unrelated families identified with biallelic PDE1B variants. Three truncating (p.Gln45Ter, p.Gln86Ter, p.Ser298Alafs*6) and three splicing variants (c.594 + 2 T>G, c.735 + 5G>A, c.837-1G>C) were identified from these patients in total. They presented with an early-onset movement disorder characterised by hypotonia in infancy, progressing to ataxia and dystonia in early childhood, with motor and speech delay, and intellectual disability. Dystonia has been reported in five patients from four families. Functional evidence is also available for these variants. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen. Sources: Literature |
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