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  3. RPS15A
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Bone Marrow Failure

Gene: RPS15A

Red List (low evidence)
RPS15A (ribosomal protein S15a)
EnsemblGeneIds (GRCh38): ENSG00000134419
EnsemblGeneIds (GRCh37): ENSG00000134419
OMIM: 603674, Gene2Phenotype
RPS15A is in 4 panels

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

Single family reported.
Sources: Expert list
Created: 12 Dec 2023, 11:44 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 20, MIM# 618313

Publications

Created: 12 Dec 2023, 11:44 p.m.

Panel version: 1.79

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 20, MIM# 618313
OMIM
603674
Clinvar variants
Variants in RPS15A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps15a has been classified as Red List (Low Evidence).

12 Dec 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RPS15A was added gene: RPS15A was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPS15A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS15A were set to PMID: 27909223 Phenotypes for gene: RPS15A were set to Diamond-Blackfan anemia 20, MIM# 618313 Review for gene: RPS15A was set to RED