TSR2

TSR2, ribosome maturation factor
OMIM: 300945, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Green TSR2 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Diamond Blackfan Anemia MDS, AML, Leukemia risk not well defined Osteosarcoma, soft tissue sarcomas
Red TSR2 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Literature Phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Red TSR2 in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red NHS GMS Curated sources Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Amber TSR2 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources North West GLH Yorkshire and North East GLH NHS GMS Expert Review Amber Wessex and West Midlands GLH Phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Amber TSR2 in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Amber Wessex and West Midlands GLH Phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
Red TSR2 in Clefting Level 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Victorian Clinical Genetics Services Phenotypes Cleft palate