Activity
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| Intellectual disability v8.174 | DAP3 |
Achchuthan Shanmugasundram changed review comment from: PMID:39701103 reported the identification of biallelic variants in DAP3 gene in five unrelated individuals presenting with variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. All five individuals had bilateral sensorineural hearing loss and the severity was profound in three of them, while not reported in the other two. Severe intellectual disability was reported in one individual and mild ID was reported in two individuals. There is also functional evidence available. This gene has been associated with relevant phenotypes in OMIM (MIM #621101). Sources: Literature; to: PMID:39701103 reported the identification of biallelic variants in DAP3 gene in five unrelated individuals presenting with variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. All five individuals had bilateral sensorineural hearing loss and the severity was profound in three of them, while not reported in the other two. Severe intellectual disability was reported in one individual and mild ID was reported in two individuals. There is also functional evidence available. This gene has been associated with relevant phenotypes in OMIM (MIM #621101), but not yet in Gene2Phenotype. Sources: Literature |
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| Intellectual disability v8.174 | DAP3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene is currently rated amber as there is only case identified with severe ID, while two other cases had only mild ID.; to: Comment on list classification: This gene is currently rated amber as there is only one case identified with severe ID, while two other cases had only mild ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.173 | DAP3 | Achchuthan Shanmugasundram Classified gene: DAP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.173 | DAP3 | Achchuthan Shanmugasundram Gene: dap3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.172 | DAP3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene is currently rated amber as there is only case identified with severe ID, while two other cases had only mild ID.; to: Comment on list classification: This gene is currently rated amber as there is only case identified with severe ID, while two other cases had only mild ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.172 | DAP3 | Achchuthan Shanmugasundram changed review comment from: Comment on list classification: This gene is currently rated red as there is only case identified with severe ID, while two other cases had only mild ID.; to: Comment on list classification: This gene is currently rated amber as there is only case identified with severe ID, while two other cases had only mild ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.172 | DAP3 | Achchuthan Shanmugasundram edited their review of gene: DAP3: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.169 | DAP3 | Achchuthan Shanmugasundram Classified gene: DAP3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.169 | DAP3 | Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene is currently rated red as there is only case identified with severe ID, while two other cases had only mild ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.169 | DAP3 | Achchuthan Shanmugasundram Gene: dap3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.168 | DAP3 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39701103 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.168 | DAP3 | Achchuthan Shanmugasundram Publications for gene: DAP3 were set to 39701103 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.167 | DAP3 |
Achchuthan Shanmugasundram gene: DAP3 was added gene: DAP3 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAP3 were set to 39701103 Phenotypes for gene: DAP3 were set to Perrault syndrome 7, OMIM:621101 Review for gene: DAP3 was set to RED Added comment: PMID:39701103 reported the identification of biallelic variants in DAP3 gene in five unrelated individuals presenting with variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. All five individuals had bilateral sensorineural hearing loss and the severity was profound in three of them, while not reported in the other two. Severe intellectual disability was reported in one individual and mild ID was reported in two individuals. There is also functional evidence available. This gene has been associated with relevant phenotypes in OMIM (MIM #621101). Sources: Literature |
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