Genomics England
GMS Panels
Panels
Genes and Entities

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 3.79
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TRIM8-related neurodevelopmental disorder
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Early-onset epileptic encephalopathy (EOEE), EE, Seizures
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Global developmental delay, Intellectual disability, Seizures
Green
in Proteinuric renal disease
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
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
nephrotic syndrome, epilepsy, Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428