Genomics England
GMS Panels
Panels
Genes and Entities

RHOBTB2

Rho related BTB domain containing 2
OMIM: 607352
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and Epileptic Encephalopathy
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 9.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 64, OMIM:618004, developmental and epileptic encephalopathy, 64, MONDO:0033373
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 64, OMIM:618004
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Developmental and epileptic encephalopathy 64, OMIM:618004, developmental and epileptic encephalopathy, 64, MONDO:0033373
Green
in Paroxysmal central nervous system disorders
R-numbers: R66
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 64, OMIM:618004, developmental and epileptic encephalopathy, 64, MONDO:0033373