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  2. Cytopenias and congenital anaemias
  3. DNAJC21
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Cytopenias and congenital anaemias

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed Red to Green due to publications to support gene-disease association
Created: 6 Jul 2018, 10:28 a.m.
Comment on publications: Added publications to support gene-disease association, and upgrading of the gene to Green
Created: 6 Jul 2018, 10:27 a.m.
Created: 6 Jul 2018, 10:27 a.m.

Panel version: 1.52

Olivia Niblock (Genomics England Curator)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pancytopaenia; Bone Marrow Failure

Created: 24 Aug 2017, 11:27 a.m.

Panel version: 1.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Pancytopaenia
  • Bone Marrow Failure
  • Bone marrow failure syndrome 3, 617052
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dnajc21 has been classified as Green List (High Evidence).

6 Jul 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DNAJC21 were set to Pancytopaenia; Bone Marrow Failure; Bone marrow failure syndrome 3, 617052

6 Jul 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DNAJC21 were set to 27346687; 28062395; 29700810

24 Aug 2017, Gel status: 0

Added New Source

Olivia Niblock (Genomics England Curator)

DNAJC21 was added to Cytopaenias and congenital anaemiaspanel. Sources: Other

24 Aug 2017, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

DNAJC21 was created by oniblock