Radial Ray Abnormalities
Gene: RPS24

RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 3 unrelated individuals reported. Thumb abnormalities are a feature.
Created: 6 Mar 2021, 2:23 a.m. | Last Modified: 24 Apr 2021, 1:55 a.m.

Panel Version: 0.130

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-blackfan anaemia 3, MIM# 610629; MONDO:0012529

Publications

Created: 6 Mar 2021, 2:23 a.m.
Last Modified: 24 Apr 2021, 1:55 a.m.
Panel version: 0.130

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 3, MIM# 610629
MONDO:0012529

OMIM

602412

Clinvar variants

Variants in RPS24

Penetrance

None

Publications

Panels with this gene