TRIM8

tripartite motif containing 8
OMIM: 606125
PanelMode of inheritanceDetails
4 panels
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early-onset epileptic encephalopathy (EOEE), EE, Seizures
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures
R-numbers: R195
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
R-numbers: R257
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428