Haematological malignancies cancer susceptibility

Gene: TSR2

The 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

Red List (low evidence)

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

• 24942156

Green List (high evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)