Proteinuria
Gene: TRIM8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures
~50% affected individuals have proteinuria, one confirmed with FSGS
Sources: LiteratureCreated: 31 Aug 2020, 1:28 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria
Publications
Phenotypes for gene: TRIM8 were changed from intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures; nephrotic syndrome; proteinuria
Gene: trim8 has been classified as Green List (High Evidence).
Gene: trim8 has been classified as Green List (High Evidence).
gene: TRIM8 was added gene: TRIM8 was added to Proteinuria. Sources: Literature Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRIM8 were set to 30244534; 32193649 Phenotypes for gene: TRIM8 were set to intellectual disability; epileptic encephalopathy; nephrotic syndrome; proteinuria Penetrance for gene: TRIM8 were set to Complete Review for gene: TRIM8 was set to GREEN