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| Mendeliome v1.2731 | PDE1B | Zornitza Stark Marked gene: PDE1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2731 | PDE1B | Zornitza Stark Gene: pde1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2731 | PDE1B | Zornitza Stark Phenotypes for gene: PDE1B were changed from movement disorder, MONDO:0005395 to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2730 | PDE1B | Zornitza Stark Classified gene: PDE1B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2730 | PDE1B | Zornitza Stark Gene: pde1b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2729 | PDE1B | Zornitza Stark reviewed gene: PDE1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.2729 | PDE1B |
Achchuthan Shanmugasundram gene: PDE1B was added gene: PDE1B was added to Mendeliome. 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: 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. Functional evidence is also available for these variants. Sources: Literature |
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