ADA

adenosine deaminase
OMIM: 608958, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels

Red ADA in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency 102700

Green ADA in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 0 reviews Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ADA in Mendeliome


    Version 1.3512

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
    • MONDO:0007064

    Green ADA in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
    • MONDO:0007064

    Green ADA in Severe Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.27

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Expert Review Green
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
    • MONDO:0007064

    Green ADA 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
    • Adenosine deaminase deficiency, partial, 102700 (3)

    Green ADA in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency

    Green ADA in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Adenosine deaminase deficiency, partial MIM#102700
    • Severe combined immunodeficiency due to ADA deficiency MIM#102700
    • disorder of purine metabolism

    Red ADA in Fetal anomalies


    Version 1.465

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
    • MONDO:0007064

    Green ADA in Prepair 1000+


    Level 2: Screening
    Version 2.14

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency MIM#102700
    • Adenosine deaminase deficiency, partial MIM#102700

    Green ADA in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064
    Tags
    • treatable
    • clinical trial
    • immunological

    Green ADA in Prepair 500+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency MIM#102700
    • Adenosine deaminase deficiency, partial MIM#102700

    Green ADA 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
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Severe combined immunodeficiency due to ADA deficiency MIM#102700
    • Adenosine deaminase deficiency, partial MIM#102700
    • disorder of purine metabolism