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BabyScreen+ newborn screening

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

Lilian Downie (Victorian Clinical Genetics Services)

Red List (low evidence)

Inadequete gene-disease association
Created: 15 Nov 2022, 1:26 a.m. | Last Modified: 15 Nov 2022, 1:26 a.m.
Panel Version: 0.890

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

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

Publications

Details

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

History Filter Activity

16 Nov 2022, 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 Nov 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TSR2 were set to

16 Nov 2022, 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).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TSR2 was added gene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946