DDX41

DEAD-box helicase 41
OMIM: 608170, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green DDX41 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.141

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871

    Green DDX41 in Incidentalome


    Version 0.430

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
    Tags
    • cancer

    Red DDX41 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.417

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Bone dysplasia, ichthyosis, and dysmorphism

    Green DDX41 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.251

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Inherited retinal dystrophy, MONDO:0019118, DDX41-related
    Tags
    • preprint

    Green DDX41 in IBMDx study


    Version 0.42

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert list
    Phenotypes
    • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871