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 1.142	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 Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 1.118	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 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 4.4 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 Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	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
Green DNAJC21 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 3, 617052