ADA2

adenosine deaminase 2
OMIM: 607575, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Green ADA2 in Vasculitis


Level 2: Immunological disorders
Version 0.93

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
Tags
  • founder

Green ADA2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
    Tags
    • founder

    Green ADA2 in Mendeliome


    Version 1.3499

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

    Green ADA2 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews Unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ADA2 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.28

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

    Red ADA2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.398

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688

    Green ADA2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Polyarteritis nodosa, childhood-onset, 615688 (3)

    Green ADA2 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.28

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Royal Melbourne Hospital
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM# 615688

    Amber ADA2 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Genomics England PanelApp
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Sneddon syndrome 182410
    • Polyarteritis nodosa

    Green ADA2 in Red cell disorders


    Level 2: Haematological disorders
    Version 1.33

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

    Green ADA2 in IBMDx study


    Version 0.38

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • IBMDx Study
    • Victorian Clinical Genetics Services
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

    Green ADA2 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688

    Green ADA2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688
    Tags
    • treatable
    • immunological

    Green ADA2 in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.8

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • Disorders of purine metabolism
    • Deficiency of adenosine deaminase 2 MONDO:0100317

    Green ADA2 in Autoimmune Lymphoproliferative Syndrome


    Level 2: Immunological disorders
    Version 1.11

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688