ABCA2

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

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber ABCA2 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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
    Amber ABCA2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.164
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.453
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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