NOP10

NOP10 ribonucleoprotein
OMIM: 606471, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber NOP10 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.112

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 1, MIM#224230
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400

    Amber NOP10 in Mendeliome


    Version 1.2302

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 1, MIM#224230
    • Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400

    Red NOP10 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 1, MIM#224230

    Red NOP10 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.114

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 1, MIM#224230

    Red NOP10 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Dyskeratosis congenita, autosomal recessive 1, MIM#224230

    Red NOP10 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Dyskeratosis congenita

    Red NOP10 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Dyskeratosis congenita