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  3. RPS27
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Bone Marrow Failure

Gene: RPS27

Red List (low evidence)
RPS27 (ribosomal protein S27)
EnsemblGeneIds (GRCh38): ENSG00000177954
EnsemblGeneIds (GRCh37): ENSG00000177954
OMIM: 603702, Gene2Phenotype
RPS27 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Created: 14 Sep 2020, 10:22 a.m. | Last Modified: 14 Sep 2020, 10:22 a.m.
Panel Version: 0.123

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 17, MIM# 617409

Publications

Created: 14 Sep 2020, 10:22 a.m.
Last Modified: 14 Sep 2020, 10:22 a.m.
Panel version: 0.123

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia 17, MIM# 617409
OMIM
603702
Clinvar variants
Variants in RPS27
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps27 has been classified as Red List (Low Evidence).

14 Sep 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS27 were changed from to Diamond-Blackfan anemia 17, MIM# 617409

14 Sep 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS27 were set to

14 Sep 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPS27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps27 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: RPS27 was added gene: RPS27 was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS27 was set to Unknown