Genomics England

scavenger receptor class B member 2

Panel	Mode of inheritance	Details
Filter panels3 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 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure, 254900, Progressive myoclonic epilepsy with preserved cognition, onset 2nd decade, renal impairment, rarely demyelinating sensory-motor neuropathy (without renal failure)
Green in Proteinuric renal disease Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R195 Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Action myoclonus renal failure syndrome, Epilepsy, progressive myoclonic 4, with or without renal failure #254900