Activity
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5 actions
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| Intellectual disability v10.69 | PDS5B | Achchuthan Shanmugasundram edited their review of gene: PDS5B: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.69 | PDS5B | Achchuthan Shanmugasundram Classified gene: PDS5B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.69 | PDS5B | Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are eight unrelated patients reported with PDS5B variants and variable neurodevelopmental features, intellectual disability was only reported in one. Hence, this gene should be rated red with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.69 | PDS5B | Achchuthan Shanmugasundram Gene: pds5b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v10.68 | PDS5B |
Achchuthan Shanmugasundram gene: PDS5B was added gene: PDS5B was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: PDS5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PDS5B were set to 42431198 Phenotypes for gene: PDS5B were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: PDS5B was set to AMBER Added comment: PMID:42431198 (2026) reported eight unrelated patients with rare heterozygous loss of function variants in PDS5B gene, of which inheritance was de novo in four, unknown in three, and inherited from unaffected parent in one. They presented with variable neurodevelopmental features and intellectual disability was reported only in one. No functional evidence available. This gene has not yet been associated with relevant phenotypes in OMIM, Gene2Phenotype or ClinGen, but associated with amber rating on the intellectual disability panel of PanelApp Australia. Sources: Literature |
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