Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

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 9 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established gene disease association
Created: 14 May 2022, 12:34 p.m. | Last Modified: 14 May 2022, 12:34 p.m.
Panel Version: 0.14291

Phenotypes
Bone marrow failure syndrome 3 - MIM#617052

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 617052 BONE MARROW FAILURE SYNDROME 3
  • BMFS3
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
None
Panels with this gene

History Filter Activity

27 May 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 May 2020, Gel status: 3

Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21

26 May 2020, Gel status: 3

Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Added phenotypes BMFS3; 617052 BONE MARROW FAILURE SYNDROME 3 for gene: DNAJC21

26 May 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: DNAJC21 was added gene: DNAJC21 was added to Skeletal dysplasia. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC21 were set to 617052 BONE MARROW FAILURE SYNDROME 3; BMFS3