Unexplained paediatric onset end-stage renal diseaseGene: 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 should be rated Green at the next review.
Created: 26 Aug 2021, 1:15 p.m. | Last Modified: 25 Oct 2021, 1:42 p.m.
Panel Version: 1.21
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
Tag Q4_21_rating tag was added to gene: TRIM8.
Gene: trim8 has been classified as Amber List (Moderate Evidence).
gene: TRIM8 was added gene: TRIM8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Literature Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM8 were set to 33508234; 32531461; 32193649; 33508234 Phenotypes for gene: TRIM8 were set to nephrotic syndrome; epilepsy; Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 Mode of pathogenicity for gene: TRIM8 was set to Other