PanelApp (test)
  1. Genes and Genomic Entities
  2. TRIM8

TRIM8

tripartite motif containing 8
OMIM: 606125, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green TRIM8 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428
  • Intellectual disability
  • Seizures
  • nephrotic syndrome
  • proteinuria

Green TRIM8 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Epilepsy Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428
  • Intellectual disability
  • Seizures