Radial Ray Abnormalities
Gene: RPS26

RPS26 (ribosomal protein S26)
EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 6 Mar 2021, 2:32 a.m. | Last Modified: 6 Mar 2021, 2:32 a.m.

Panel Version: 0.69

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217

Publications

Created: 6 Mar 2021, 2:32 a.m.
Last Modified: 6 Mar 2021, 2:32 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.69

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

Diamond-Blackfan anaemia 10, MIM# 613309
MONDO:0013217

OMIM

603701

Clinvar variants

Variants in RPS26

Penetrance

None

Publications

Panels with this gene