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| Intellectual disability v8.229 | KCNJ2 | Arina Puzriakova Added comment: Comment on publications: PMID: 22155372 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 v8.229 | KCNJ2 | Arina Puzriakova Publications for gene: KCNJ2 were set to 22155372 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v8.228 | KCNJ2 |
Arina Puzriakova gene: KCNJ2 was added gene: KCNJ2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCNJ2 were set to 22155372 Phenotypes for gene: KCNJ2 were set to Short QT syndrome 3, OMIM:609622 Added comment: PMID: 22155372 (2012) - 8-year-old Japanese girl with a markedly short QT interval and a heterozygous KCNJ2 variant (M301K). Authors noted extracardiac features, including severe intellectual disability and seizures, which they suggested might be attributed to the KCNJ2 variant, but they could not exclude the possibility of other mutated genes. Intellectual disability is not a typical feature and currently there is not enough evidence to conclusively link KCNJ2. Therefore rating Red until more evidence emerges. Sources: Literature |
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