Haematological malignancies cancer susceptibility
Gene: DNAJC21The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 10:30 a.m. | Last Modified: 3 Mar 2022, 10:30 a.m.
Panel Version: 2.23
Comment on list classification: New gene added by Kiran Tawana (Addenbrooke's Hospital, Cambridge) with a Green expert review rating.
Biallelic variants in the DNAJC21 gene are associated with bone marrow failure syndrome-3 (MIM# 617052). At least 15 individuals reported in literature (PMIDs: 27346687; 28062395; 29146883; 29700810), of which only one developed acute myeloid leukaemia (AML-M7), at the age of 12 years (P3 in PMID: 27346687). However, it should be considered that the remaining cases were all children (14 mo - 14 yrs of age) and so the risk of malignancy later in life remains.
BMF syndromes can be associated with an increased cancer risk, and in parallel with the Green expert review, DNAJC21 will be flagged for GMS review to assess whether there is substantial evidence to rate this gene Green on this panel.Created: 2 Feb 2021, 3:04 p.m. | Last Modified: 2 Feb 2021, 3:04 p.m.
Panel Version: 2.7
Sources: LiteratureCreated: 29 Jan 2021, 12:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS
Publications
Tag for-review was removed from gene: DNAJC21.
Source Expert Review Green was added to DNAJC21. Source NHS GMS was added to DNAJC21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: DNAJC21.
Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810
Gene: dnajc21 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DNAJC21 were changed from bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS to Bone marrow failure syndrome 3, OMIM:617052; Bone marrow failure syndrome 3, MONDO:0014887
gene: DNAJC21 was added gene: DNAJC21 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810 Phenotypes for gene: DNAJC21 were set to bone marrow failure; AML; developmental delay; pancreatic insufficiency, overlap with SBDS Penetrance for gene: DNAJC21 were set to Complete Review for gene: DNAJC21 was set to GREEN