PanelApp (staging)
  1. Genes and Genomic Entities
  2. SCARB2

SCARB2

scavenger receptor class B member 2
OMIM: 602257, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green SCARB2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive Myoclonus Epilepsy, MONDO:0020074
  • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900

Green SCARB2 in Proteinuria


Level 2: Renal and urinary tract disorders
Version 0.229

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Glomerular Disease_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Progressive Myoclonus Epilepsy, MONDO:0020074
    • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900

    Green SCARB2 in Lysosomal Storage Disorder


    Level 2: Metabolic conditions
    Version 1.13

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • action myoclonus-renal failure syndrome MONDO:0009699
    • Other disorders of complex molecule degradation

    Green SCARB2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.108

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Progressive Myoclonus Epilepsy, MONDO:0020074
    • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900

    Green SCARB2 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.572

    		0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green SCARB2 in Progressive Myoclonic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.19

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Epilepsy, progressive myoclonic 4, with or without renal failure 254900

    Green SCARB2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)

    Green SCARB2 in Prepair 1000+


    Level 2: Screening
    Version 1.1566

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900

    Red SCARB2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900