Genomics England
GMS Panels
Panels
Genes and Entities

SCARB2

scavenger receptor class B member 2
OMIM: 602257
PanelMode of inheritanceDetails
3 panels
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Green
in Proteinuric renal disease
R-numbers: R195
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Action myoclonus renal failure syndrome, Epilepsy, progressive myoclonic 4, with or without renal failure #254900
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 4, with or without renal failure 254900