DNAJC21

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green DNAJC21 in Bone Marrow Failure Level 2: Haematological disorders Version 1.93	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Bone marrow failure syndrome 3, MIM# 617052
Green DNAJC21 in Mendeliome Version 1.1902	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 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	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 0.285	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 0.109	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 Metaphyseal dysplasias Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.5	review	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 0.25	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 1.9	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 BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Bone marrow failure syndrome 3, MIM# 617052 Tags treatable haematological