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Red cell disorders

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, 10:25 a.m. | Last Modified: 14 Sep 2020, 10:25 a.m.
Panel Version: 0.24

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 17, MIM# 617409

Publications

Created: 14 Sep 2020, 10:25 a.m.
Last Modified: 14 Sep 2020, 10:25 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.24

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 17, MIM# 617409
OMIM
603702
Clinvar variants
Variants in RPS27
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: rps27 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: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, to Diamond-Blackfan anemia 17, MIM# 617409

16 Sep 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS27 were set to 25424902; 23718193

16 Sep 2021, 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).

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27 Publications for gene RPS27 were updated from 23718193; 25424902 to 25424902; 23718193

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS27 was added gene: RPS27 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPS27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS27 were set to 23718193; 25424902 Phenotypes for gene: RPS27 were set to ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17,; Diamond-Blackfan anemia