TRIM8

tripartite motif containing 8
OMIM: 606125
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TRIM8-related neurodevelopmental disorder
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early-onset epileptic encephalopathy (EOEE), EE, Seizures
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures
R-numbers: R195
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428
R-numbers: R257
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428