1. Genes and Genomic Entities
  2. ABCA2

ABCA2

ATP binding cassette subfamily A member 2
OMIM: 600047, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ABCA2 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.32
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
    Green ABCA2 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OMIM:618808.0
    • MONDO:0032930
    • ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia
    Amber ABCA2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.74
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930
    Green ABCA2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.26
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, OMIM:618808
    • Intellectual developmental disorder with poor growth and with or without seizures or ataxia, MONDO:0032930