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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 27346687 - 4 patient from different families. PMID: 28062395 - 3 families. PMID: 35298850 - 1 case. PMID: 29700810 - 5 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • DNAJC21 related Shwachman-Diamond syndrome
OMIM
617048
Clinvar variants
Variants in DNAJC21
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DNAJC21 were changed from Bone marrow failure syndrome 3 to DNAJC21 related Shwachman-Diamond syndrome

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bone marrow failure syndrome 3 for gene: DNAJC21

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bone marrow failure syndrome 3 for gene: DNAJC21

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bone marrow failure syndrome 3 for gene: DNAJC21

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to DNAJC21. Added phenotypes Bone marrow failure syndrome 3 for gene: DNAJC21 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: DNAJC21 was added gene: DNAJC21 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal