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  3. DNAJC21
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Phagocyte Defects

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over ten unrelated families reported.
Sources: Expert list
Created: 5 Apr 2020, 4:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bone marrow failure syndrome 3, MIM# 617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome

Publications

Created: 5 Apr 2020, 4:56 a.m.

Panel version: 0.11

Details

Mode of Inheritance
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
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Apr 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).

5 Apr 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).

5 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DNAJC21 was added gene: DNAJC21 was added to Phagocyte Defects. Sources: Expert list 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, MIM# 617052; Short stature; Exocrine pancreatic insufficiency; Pancytopaenia; Shwachman-Diamond syndrome Review for gene: DNAJC21 was set to GREEN