DNAJC21

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

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green DNAJC21 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS North West GLH Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Bone marrow failure syndrome 3, 617052 Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure Shwachman-Diamond syndrome-like Congenital defects of phagocyte number or function
Green DNAJC21 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Phenotypes Bone marrow failure syndrome 3, 617052 Shwachman-Diamond syndrome-like Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure Congenital defects of phagocyte number or function
Green DNAJC21 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Pancytopaenia Bone Marrow Failure Bone marrow failure syndrome 3, 617052
Green DNAJC21 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Bone marrow failure syndrome 3, OMIM:617052 Bone marrow failure syndrome 3, MONDO:0014887
Green DNAJC21 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Pancytopaenia Bone Marrow Failure 617052 Bone marrow failure syndrome 3 Bone marrow failure syndrome 3, 617052
Amber DNAJC21 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bone marrow failure syndrome 3