ABI2

abl interactor 2
OMIM: 606442, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ABI2 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.19
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • gene-checked
    Green ABI2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
    Tags
    • gene-checked
    Amber ABI2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.168
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Expert list
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • gene-checked
    Amber ABI2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.346
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • intellectual disability, MONDO:0001071
    • neurodevelopmental disorder, MONDO:0700092
    Tags
    • gene-checked