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  3. TSR2
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Cytopenia - NOT Fanconi anaemia

Gene: TSR2

Amber List (moderate evidence)
TSR2 (TSR2, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000158526
EnsemblGeneIds (GRCh37): ENSG00000158526
OMIM: 300945, Gene2Phenotype
TSR2 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: TSR2; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Phenotypes: ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946; PMID(s): 20301769;24942156
Created: 6 Feb 2019, 3:13 p.m.
Created: 6 Feb 2019, 3:13 p.m.

Panel version: 0.6

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 3:12 p.m.
Created: 6 Feb 2019, 3:12 p.m.

Panel version: 0.5

Details

Mode of Inheritance
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
OMIM
300945
Clinvar variants
Variants in TSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to TSR2.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to TSR2. Mode of inheritance for gene TSR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 Publications for gene TSR2 were changed from to 24942156; 20301769 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TSR2 was added gene: TSR2 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TSR2 was set to