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Red cell disorders

Gene: TSR2

Red List (low evidence)
TSR2 (TSR2, ribosome maturation factor)
EnsemblGeneIds (GRCh38): ENSG00000158526
EnsemblGeneIds (GRCh37): ENSG00000158526
OMIM: 300945, Gene2Phenotype
TSR2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family with two male cousins reported, missense variant, no functional data.
Created: 15 Sep 2020, 5:44 a.m. | Last Modified: 15 Sep 2020, 5:44 a.m.
Panel Version: 0.28

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

Phenotypes
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946

Publications

Created: 15 Sep 2020, 5:44 a.m.
Last Modified: 15 Sep 2020, 5:44 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.28

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946
OMIM
300945
Clinvar variants
Variants in TSR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsr2 has been classified as Red List (Low Evidence).

16 Sep 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSR2 were changed from 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946

16 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tsr2 has been classified as Red List (Low Evidence).

15 Oct 2020, Gel status: 2

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 for gene: TSR2 Publications for gene TSR2 were updated from 24942156; 20301769 to 20301769; 24942156

15 Sep 2020, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSR2 was added gene: TSR2 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Amber,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH 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; 20301769 Phenotypes for gene: TSR2 were set to 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946