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| Unexplained kidney failure in young people v1.96 | TRIM8 | Ivone Leong Publications for gene: TRIM8 were set to 33508234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.95 | TRIM8 | Ivone Leong Classified gene: TRIM8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.95 | TRIM8 | Ivone Leong Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene has been given a Green rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.95 | TRIM8 | Ivone Leong Gene: trim8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.94 | TRIM8 | Ivone Leong Phenotypes for gene: TRIM8 were changed from nephrotic syndrome; epilepsy to nephrotic syndrome; epilepsy; Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained kidney failure in young people v1.92 | TRIM8 |
Julia Baptista gene: TRIM8 was added gene: TRIM8 was added to Unexplained kidney failure in young people. Sources: Literature Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM8 were set to 33508234 Phenotypes for gene: TRIM8 were set to nephrotic syndrome; epilepsy Mode of pathogenicity for gene: TRIM8 was set to Other Review for gene: TRIM8 was set to GREEN Added comment: Eight families with NFS, six confirmed de novo heterozygous variants clustering within the last exon between residues 390 and 487 of the 551 amino acid protein, indicating a correlation between this syndrome and loss of the TRIM8 C-terminal region. Gain-of-function is the proposed disease mechanism. Sources: Literature |
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