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  3. TSR2
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Fetal anomalies

Gene: TSR2

Red List (low evidence)
TSR2 (TSR2, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000158526
EnsemblGeneIds (GRCh37): ENSG00000158526
OMIM: 300945, Gene2Phenotype
TSR2 is in 7 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Esther Kinning (NHS Greater Glasgow and Clyde)

Red List (low evidence)

[consistency check - other Diamond Blackfan genes are on panel], red in austrlian panel. Green on some UK panels.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

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

Phenotypes
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493
OMIM
300945
Clinvar variants
Variants in TSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: TSR2 was added gene: TSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSR2 were set to 24942156 Phenotypes for gene: TSR2 were set to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493