SCARB2

scavenger receptor class B member 2
OMIM: 602257
PanelMode of inheritanceDetails
3 panels
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 4, with or without renal failure 254900
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
R-numbers: R257
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 4, with or without renal failure 254900