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  3. DNAJC21
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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: DNAJC21

Green List (high evidence)
DNAJC21 (DnaJ heat shock protein family (Hsp40) member C21)
EnsemblGeneIds (GRCh38): ENSG00000168724
EnsemblGeneIds (GRCh37): ENSG00000168724
OMIM: 617048, Gene2Phenotype
DNAJC21 is in 6 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bone marrow failure syndrome 3, MIM#617052
  • Exocrine pancreatic insufficiency
  • Shwachman-Diamond syndrome
  • Short stature
  • Pancytopaenia
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: DNAJC21 was added gene: DNAJC21 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 27346687; 29700810; 28062395 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM#617052; Exocrine pancreatic insufficiency; Shwachman-Diamond syndrome; Short stature; Pancytopaenia