Unexplained kidney failure in young peopleGene: TRIM8
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.
Created: 26 Aug 2021, 1:15 p.m. | Last Modified: 26 Aug 2021, 1:15 p.m.
Panel Version: 1.95
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.
Created: 21 Feb 2021, 8:56 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
nephrotic syndrome; epilepsy
Mode of pathogenicity
Publications for gene: TRIM8 were set to 33508234
Gene: trim8 has been classified as Green List (High Evidence).
Phenotypes for gene: TRIM8 were changed from nephrotic syndrome; epilepsy to nephrotic syndrome; epilepsy; Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
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