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  3. RPS15
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Diamond Blackfan anaemia

Gene: RPS15

Red List (low evidence)
RPS15 (ribosomal protein S15)
EnsemblGeneIds (GRCh38): ENSG00000115268
EnsemblGeneIds (GRCh37): ENSG00000115268
OMIM: 180535, Gene2Phenotype
RPS15 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported in 2008, no reports since.
Sources: Expert Review
Created: 14 Dec 2022, 2:45 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related

Publications

Created: 14 Dec 2022, 2:45 a.m.

Panel version: 1.6

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related
OMIM
180535
Clinvar variants
Variants in RPS15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps15 has been classified as Red List (Low Evidence).

14 Dec 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS15 was added gene: RPS15 was added to Diamond Blackfan anaemia. Sources: Expert Review Mode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS15 were set to 19061985 Phenotypes for gene: RPS15 were set to Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related Review for gene: RPS15 was set to RED