Activity
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| Early onset or syndromic epilepsy v7.78 | KCNH8 | Sarah Leigh Added comment: Comment on publications: PMID: 39156922 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.78 | KCNH8 | Sarah Leigh Publications for gene: KCNH8 were set to 39156922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v7.76 | RTEL1 |
Sarah Leigh gene: RTEL1 was added gene: RTEL1 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 39156922 Phenotypes for gene: RTEL1 were set to Familial Progressive Myoclonus Epilepsy Review for gene: RTEL1 was set to RED Added comment: PMID: 39156922 reports two sibling from a consanguineous family who had familial progressive myoclonus epilepsy. Both of the sibling were homozygous for a KCNH8 variant (NM_144633.3:c.298T>C; p.Tyr100His) and a RTEL1 variant (NM_032957.5:c.691G>T; p.Asp231Tyr). Sources: Literature |
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| Early onset or syndromic epilepsy v7.75 | KCNH8 |
Sarah Leigh gene: KCNH8 was added gene: KCNH8 was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: KCNH8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNH8 were set to 39156922 Phenotypes for gene: KCNH8 were set to Familial Progressive Myoclonus Epilepsy Review for gene: KCNH8 was set to RED Added comment: PMID: 39156922 reports two sibling from a consanguineous family who had familial progressive myoclonus epilepsy. Both of the sibling were homozygous for a KCNH8 variant (NM_144633.3:c.298T>C; p.Tyr100His) and a RTEL1 variant (NM_032957.5:c.691G>T; p.Asp231Tyr). Sources: Literature |
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