1. Genes and Genomic Entities
  2. SCP2

SCP2

sterol carrier protein 2
OMIM: 184755, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green SCP2 in Peroxisomal disorders

Level 3: Peroxisomal disorders
Level 2: Metabolic disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy 613724
Red SCP2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • ?Leukoencephalopathy with dystonia and motor neuropathy 613724
Red SCP2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review Not set
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, 613724
Green SCP2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.15
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy
    Green SCP2 in Inherited white matter disorders

    Level 3: White matter disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.186

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy 613724
    Red SCP2 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.16
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, 613724
    Green SCP2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
    Green SCP2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
    Red SCP2 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, 613724
    • Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
    Red SCP2 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, 613724
    • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724
    Red SCP2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.43
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, 613724
    • Dystonia, hyposmia, azoospermia, motor predominant axonal neuropathy, bilateral thalamic T2 high signal on MRI
    Red SCP2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Unknown
    Sources
    • South West GLH
    • Expert Review Red
    • London North GLH
    Phenotypes
    • ?Leukoencephalopathy with dystonia and motor neuropathy, 613724