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  3. TSR2
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Cytopenias and congenital anaemias

Gene: TSR2

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Currently only one family reported (PMID:24942156)
Created: 13 Mar 2017, 5:17 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Publications

Created: 13 Mar 2017, 5:14 p.m.

Panel version: 1.7

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
Phenotypes
  • ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946
OMIM
300945
Clinvar variants
Variants in TSR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

13 Mar 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TSR2 were set to ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946

13 Mar 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TSR2 were set to 20301769;24942156

13 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

TSR2 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature

13 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TSR2 was created by LouiseD