PanelApp
  1. Genes and Genomic Entities
  2. ABCA2

ABCA2

ATP binding cassette subfamily A member 2
OMIM: 600047, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ABCA2 in Mendeliome


Version 2.577

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808

Green ABCA2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.42

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808

    Green ABCA2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, 618808

    Green ABCA2 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.157

    Component of the following Super Panels:

  • Movement Disorders Superpanel
  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930