Genomics England
GMS Panels
Panels
Genes and Entities

SCP2

sterol carrier protein 2
OMIM: 184755
PanelMode of inheritanceDetails
2 panels
Green
in Likely inborn error of metabolism - targeted testing not possible
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 4.78
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukoencephalopathy with dystonia and motor neuropathy