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| Intellectual disability v8.75 | RUNX1T1 | Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39568205 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 v8.75 | RUNX1T1 | Achchuthan Shanmugasundram Publications for gene: RUNX1T1 were set to 22644616; 39568205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.74 | RUNX1T1 | Achchuthan Shanmugasundram Classified gene: RUNX1T1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.74 | RUNX1T1 | Achchuthan Shanmugasundram Gene: runx1t1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.73 | RUNX1T1 |
Achchuthan Shanmugasundram gene: RUNX1T1 was added gene: RUNX1T1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RUNX1T1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RUNX1T1 were set to 22644616; 39568205 Phenotypes for gene: RUNX1T1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 Review for gene: RUNX1T1 was set to AMBER Added comment: PMID:22644616 reported a patient with mild intellectual disability and de novo deletion within the RUNX1T1 gene. PMID:39568205 reported three unrelated individuals with neurodevelopmental and congenital anomalies and with de novo variants in RUNX1T1 gene. Although delayed speech and language development and delayed fine motor development was reported in all three cases, global developmental delay was only reported in two of them. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Hence, this gene should be rated amber with current evidence. Sources: Literature |
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