DNASE2:Ensemblv90

deoxyribonuclease 2, lysosomal
OMIM: 126350, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green DNASE2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.131

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammatory-pancytopenia syndrome, MIM#619858

    Green DNASE2 in Mendeliome


    Version 1.3802

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammatory-pancytopaenia syndrome, MIM# 619858

    Green DNASE2 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 2.40

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Autoinflammatory-pancytopaenia syndrome, MIM# 619858

    Green DNASE2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Autoinflammatory-pancytopenia syndrome, MIM# 619858
    Tags
    • treatable
    • immunological

    Green DNASE2 in Bone Marrow Failure


    Level 2: Haematological disorders
    Version 2.0

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Autoinflammatory-pancytopenia syndrome, MIM#619858

    Green DNASE2 in Autoinflammatory Disorders


    Level 2: Immunological disorders
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Autoinflammatory-pancytopaenia syndrome, MIM# 619858

    Green DNASE2 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Autoinflammatory-pancytopenia syndrome, MIM# 619858
    Tags
    • treatable
    • immunological