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  3. TRIM8
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Proteinuria

Gene: TRIM8

Green List (high evidence)
TRIM8 (tripartite motif containing 8)
EnsemblGeneIds (GRCh38): ENSG00000171206
EnsemblGeneIds (GRCh37): ENSG00000171206
OMIM: 606125, Gene2Phenotype
TRIM8 is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428; Intellectual disability; Seizures

Created: 6 Aug 2021, 1:07 a.m.
Last Modified: 6 Aug 2021, 1:07 a.m.
Panel version: 0.169

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

~50% affected individuals have proteinuria, one confirmed with FSGS
Sources: Literature
Created: 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

Created: 31 Aug 2020, 1:28 p.m.

Panel version: 0.122

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428
  • Intellectual disability
  • Seizures
  • nephrotic syndrome
  • proteinuria
OMIM
606125
Clinvar variants
Variants in TRIM8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: trim8 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: trim8 has been classified as Green List (High Evidence).

31 Aug 2020, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

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