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  3. TSR2
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Bone Marrow Failure

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, 4:13 a.m. | Last Modified: 15 Sep 2020, 4:13 a.m.
Panel Version: 0.152

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, 4:13 a.m.
Last Modified: 15 Sep 2020, 4:13 a.m.
Panel version: 0.152

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • 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

15 Sep 2020, 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 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSR2 were set to

15 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

15 Sep 2020, 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSR2 was added gene: TSR2 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TSR2 was set to Unknown