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| Haematological malignancies cancer susceptibility v2.23 | DNAJC21 | Arina Puzriakova Tag for-review was removed from gene: DNAJC21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.23 | DNAJC21 | Arina Puzriakova commented on gene: DNAJC21: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.22 | DNAJC21 |
Arina Puzriakova 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) |
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| Haematological malignancies cancer susceptibility v2.8 | DNAJC21 | Arina Puzriakova Tag for-review tag was added to gene: DNAJC21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.8 | DNAJC21 | Arina Puzriakova Publications for gene: DNAJC21 were set to PMID: 27346687; PMID: 29700810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 | Arina Puzriakova Classified gene: DNAJC21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 |
Arina Puzriakova Added comment: 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. |
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| Haematological malignancies cancer susceptibility v2.7 | DNAJC21 | Arina Puzriakova Gene: dnajc21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.6 | DNAJC21 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.5 | DNAJC21 |
Kiran Tawana 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 Added comment: Sources: Literature |
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