Proteinuric renal disease

Gene: TRIM8

Amber List (moderate evidence)

TRIM8 (tripartite motif containing 8)
EnsemblGeneIds (GRCh38): ENSG00000171206
EnsemblGeneIds (GRCh37): ENSG00000171206
OMIM: 606125, Gene2Phenotype
TRIM8 is in 6 panels

2 reviews

Ivone Leong (Genomics England Curator)

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, 1:43 p.m.
Panel Version: 2.59

Julia Baptista (Royal Devon and Exeter NHS Foundation Trust)

Green List (high evidence)

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
Created: 21 Feb 2021, 8:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
nephrotic syndrome; epilepsy

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • nephrotic syndrome
  • epilepsy
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
Tags
Q4_21_rating
OMIM
606125
Clinvar variants
Variants in TRIM8
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trim8 has been classified as Amber List (Moderate Evidence).

25 Oct 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: TRIM8.

25 Oct 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

gene: TRIM8 was added gene: TRIM8 was added to Proteinuric 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