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| Fetal anomalies v5.86 | DET1 | Sarah Leigh Added comment: Comment on publications: PMID: 39937864 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.86 | DET1 | Sarah Leigh Publications for gene: DET1 were set to 39937864 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.85 | DET1 |
Sarah Leigh gene: DET1 was added gene: DET1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DET1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DET1 were set to 39937864 Phenotypes for gene: DET1 were set to neurological defects and lethality Review for gene: DET1 was set to RED Added comment: PMID: 39937864 reports a family where the three affected siblings were homozygous for a variant in DET1 (c.76C>T, p.R26W) and also for a variant in COMMD4 (c.122T>G; p.L41R). These genes are both on chromosome 15, separated by 13 Mb and are likely to co-segregate. The parents of these cases were healthy, heterozygous carriers of the DET1 p.R26W variant. The cases described developed lethal developmental abnormalities and the longest lived sib died at 8 months old. Extensive functional studies were reported in PMID: 39937864 and using Det1- deficient mice and human-induced pluripotent stem cells (iPSCs) expressing DET1R26W, the authors were able to show that DET1 is essential for normal neuronal development. Sources: Literature |
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