ABI2

abl interactor 2
OMIM: 606442, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber ABI2 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.153

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ABI2-related

Amber ABI2 in Mendeliome


Version 1.3741

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092, ABI2-related

Amber ABI2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.303

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ABI2-related

    Amber ABI2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.575

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ABI2-related

    Amber ABI2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.486

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodevelopmental disorder, MONDO:0700092, ABI2-related