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| Haematological malignancies cancer susceptibility v3.3 | RAD21 |
Arina Puzriakova Tag Q4_22_promote_green was removed from gene: RAD21. Tag Q4_22_expert_review was removed from gene: RAD21. |
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| Haematological malignancies cancer susceptibility v3.3 | RAD21 | Arina Puzriakova edited their review of gene: RAD21: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v3.2 | RAD21 |
Arina Puzriakova Source Expert Review Green was added to RAD21. Source NHS GMS was added to RAD21. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Haematological malignancies cancer susceptibility v2.38 | RAD21 | Arina Puzriakova Tag missense tag was added to gene: RAD21. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.38 | RAD21 | Arina Puzriakova Mode of pathogenicity for gene: RAD21 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.37 | RAD21 |
Arina Puzriakova Tag Q4_22_promote_green tag was added to gene: RAD21. Tag Q4_22_expert_review tag was added to gene: RAD21. |
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| Haematological malignancies cancer susceptibility v2.37 | RAD21 | Arina Puzriakova Classified gene: RAD21 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.37 | RAD21 |
Arina Puzriakova Added comment: Comment on list classification: RAD21 will be flagged for expert review at the next GMS panel update to determine whether there is enough evidence to classify this gene as Green. Somatic variants have been found in multiple AML cohorts (PMID: 34157074); however, only one recurrent germline variant (c.892C>T/G, p.P298S/A) was found in three unrelated children with lymphoblastic leukemia or lymphoma (PMID:35563565). The same variant was also found in an adult patient with a solid tumour (malignant peripheral nerve sheath tumour). Functional studies showed the variant disrupted RAD21 gene expression and DNA damage response but did not perturb formation of the cohesin complex. Notably 2/3 patients harboured known pathogenic somatic KRAS hot-spot variants. Heterozygous variants in the RAD21 gene are also associated with Cornelia-de-Lange syndrome (MIM# 614701) which is not known to confer cancer predisposition. |
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| Haematological malignancies cancer susceptibility v2.37 | RAD21 | Arina Puzriakova Gene: rad21 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haematological malignancies cancer susceptibility v2.34 | RAD21 |
Dmitrijs Rots gene: RAD21 was added gene: RAD21 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAD21 were set to 35563565 Phenotypes for gene: RAD21 were set to Children to Lymphoblastic Leukemia or Lymphoma Penetrance for gene: RAD21 were set to Incomplete Mode of pathogenicity for gene: RAD21 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAD21 was set to GREEN Added comment: >3 cases reported with recurrent RAD21 missense variant with lymphocytic malignancy (ALL or LBL) without CdLS features + functional evidence in 35563565. Sufficient for green rating. Sources: Literature |
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