Activity
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| Intellectual disability v8.67 | GPATCH11 | Achchuthan Shanmugasundram Phenotypes for gene: GPATCH11 were changed from neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.66 | GPATCH11 | Achchuthan Shanmugasundram edited their review of gene: GPATCH11: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.66 | GPATCH11 | Achchuthan Shanmugasundram Classified gene: GPATCH11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.66 | GPATCH11 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.66 | GPATCH11 | Achchuthan Shanmugasundram Gene: gpatch11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.65 | GPATCH11 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39572588 paper 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 v8.65 | GPATCH11 | Achchuthan Shanmugasundram Publications for gene: GPATCH11 were set to 39572588 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.64 | GPATCH11 | Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: GPATCH11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.64 | GPATCH11 |
Achchuthan Shanmugasundram gene: GPATCH11 was added gene: GPATCH11 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPATCH11 were set to 39572588 Phenotypes for gene: GPATCH11 were set to neuronevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: GPATCH11 was set to GREEN Added comment: PMID:39572588 reported 12 individuals from six unrelated families presenting with a syndromic disease and they were identified with biallelic variants in GPATCH11 gene. Intellectual disability was present in three unrelated families, while global developmental delay was reported in all. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature |
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