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  1. Genes and Genomic Entities
  2. SCP2

SCP2

sterol carrier protein 2
OMIM: 184755, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SCP2 in Mendeliome


Version 1.3512

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

Amber SCP2 in Peroxisomal Disorders


Level 2: Metabolic disorders
Version 0.56

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724

    Red SCP2 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.333

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy 613724

    Red SCP2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Leukoencephalopathy - dystonia - motor neuropathy

    Amber SCP2 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  4 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
    • Neurodegeneration with brain iron accumulation
    • ataxia

    Red SCP2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Leukoencephalopathy - dystonia - motor neuropathy