Activity
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| Intellectual disability v7.5 | PCBP2 | Achchuthan Shanmugasundram Classified gene: PCBP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.5 | PCBP2 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there were three unrelated cases reported with three different variants in PMID:38965372. One of them had borderline ID, one had mild ID and two had delayed motor and speech development. This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM. Hence, this gene can only be rated amber with current evidence. |
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| Intellectual disability v7.5 | PCBP2 | Achchuthan Shanmugasundram Gene: pcbp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.4 | PCBP2 | Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.4 | PCBP2 | Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder MONDO:0700092, PCBP2-related to neurodevelopmental disorder, MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.3 | PCBP2 | Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38965372; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v6.77 | PCBP2 |
Zornitza Stark gene: PCBP2 was added gene: PCBP2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PCBP2 were set to 38965372 Phenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related Review for gene: PCBP2 was set to GREEN Added comment: Three individuals reported with de novo variants and DD/ASD. Sources: Literature |
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