PanelApp
  1. Genes and Genomic Entities
  2. DNAJC21

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21
OMIM: 617048, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green DNAJC21 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.129

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 3, MIM# 617052

    Green DNAJC21 in Mendeliome


    Version 1.3512

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bone marrow failure syndrome 3 - MIM#617052

    Green DNAJC21 in Phagocyte Defects


    Level 2: Immunological disorders
    Version 1.44

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 3, MIM# 617052
    • Short stature
    • Exocrine pancreatic insufficiency
    • Pancytopaenia
    • Shwachman-Diamond syndrome

    Green DNAJC21 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.346

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • 617052 BONE MARROW FAILURE SYNDROME 3
    • BMFS3

    Green DNAJC21 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
    • Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive

    Green DNAJC21 in Metaphyseal dysplasias

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.5

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • 617052 BONE MARROW FAILURE SYNDROME 3
    • BMFS3

    Green DNAJC21 in IBMDx study


    Version 0.38

    		1 review Unknown
    Sources
    • Expert Review Green
    • IBMDx Study
    • Expert Review Green
    • Expert list
    Phenotypes
    • Bone marrow failure syndrome 3, MIM# 617052

    Green DNAJC21 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive

    Green DNAJC21 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Bone marrow failure syndrome 3, MIM# 617052
    Tags
    • treatable
    • haematological