Haematological malignancies cancer susceptibility
Gene: TSR2The 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: Currently only one family reported (PMID:24942156) and leukemia risk not well defined. This indicates that there is NOT sufficient evidence for a Green rating and this gene should be downgraded to Amber/Red - will be flagged for review at the next GMS panel update (added 'for-review' tag)Created: 17 Sep 2020, 12:30 p.m. | Last Modified: 20 Oct 2020, 12:49 p.m.
Panel Version: 2.5
Single family reported.Created: 15 Sep 2020, 4:15 a.m. | Last Modified: 15 Sep 2020, 4:15 a.m.
Panel Version: 2.3
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
Publications
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Tag for-review was removed from gene: TSR2.
Source NHS GMS was added to TSR2. Source Expert Review Red was added to TSR2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: TSR2.
Phenotypes for gene: TSR2 were changed from Class: BM failure syndrome (typ AR); Diamond Blackfan Anemia; MDS, AML, Leukemia risk not well defined; Osteosarcoma, soft tissue sarcomas to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Gene: tsr2 has been classified as Green List (High Evidence).
Ellen McDonagh: Comment on mode of inheritance
Expert Review Green was added to TSR2. Panel: Haematological malignancies pertinent cancer susceptibility
TSR2 was created by ellenmcdonagh
TSR2 was added to Haematological malignanciespanel. Sources: Curated sources