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  3. DNAJC21
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Fetal anomalies

Gene: DNAJC21

Amber List (moderate 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

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Gene-disease: congenital bone marrow failure. Prenatal phenotypes: not reported but theoretically possible (PMID: 28062395 postnatal presentations, PMID: 27346687 4 cases presented with 'IUGR and/or short stature', PMID 29700810: 5 cases with postnatal growth delay, failure to thrive (File S1), progressive microcephaly, motor or global development delay, mild dysmorphic features, severe/precocious osteopenia, postnatal skeletal irregularities, congenital hip dysplasia, joint hypermobility, and skin or adnexa abnormalities
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 3

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Bone marrow failure syndrome 3
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DNAJC21 was added gene: DNAJC21 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3