Activity
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| Intellectual disability v9.41 | PDE1B | Achchuthan Shanmugasundram Classified gene: PDE1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.41 | PDE1B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Intellectual disability was reported with the severity of moderate or above in only one patient and was either mild or severity not reported in others. Hence, this gene can only be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.41 | PDE1B | Achchuthan Shanmugasundram Gene: pde1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.40 | PDE1B |
Achchuthan Shanmugasundram changed review comment from: 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 (ID). ID was moderate in one patient, mild in three and severity not reported in one (ID noticed at the age of three years), while ID was not reported in two patients. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen.; to: 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 (ID). ID was moderate in one patient, mild in three and severity not reported in one patient (ID noticed at the age of three years). This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen. |
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| Intellectual disability v9.40 | PDE1B | Achchuthan Shanmugasundram Classified gene: PDE1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.40 | PDE1B | Achchuthan Shanmugasundram Gene: pde1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.39 | PDE1B | Achchuthan Shanmugasundram Phenotypes for gene: PDE1B were changed from hypotonia; ataxia; dystonia; developmental delay; intellectual disability to movement disorder, MONDO:0005395; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.38 | PDE1B | Achchuthan Shanmugasundram edited their review of gene: PDE1B: Changed phenotypes to: movement disorder, MONDO:0005395, intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.38 | PDE1B | Achchuthan Shanmugasundram Publications for gene: PDE1B were set to PMID: 40492975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.37 | PDE1B | Achchuthan Shanmugasundram reviewed gene: PDE1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 40492975; Phenotypes: movement disorder, MONDO:0005395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.24 | PDE1B |
Sarah Dixon gene: PDE1B was added gene: PDE1B was added to Intellectual disability. 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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