ARID2

AT-rich interaction domain 2
OMIM: 609539, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber ARID2 in Fetal anomalies


Version 4.1
Latest signed off version: v4.0 (1 May 2024)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • ARID2-Coffin-Siris like disorder
Green ARID2 in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • ARID2-Coffin-Siris like disorder
    Green ARID2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Coffin-Siris syndrome 6, 617808
    • ARID2-Coffin-Siris like disorder
    Green ARID2 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Coffin-Siris syndrome 6, 617808