Radial Ray Abnormalities
Gene: RPS7

RPS7 (ribosomal protein S7)
EnsemblGeneIds (GRCh38): ENSG00000171863
EnsemblGeneIds (GRCh37): ENSG00000171863
OMIM: 603658, Gene2Phenotype
RPS7 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association.
Created: 6 Mar 2021, 2:40 a.m. | Last Modified: 6 Mar 2021, 2:40 a.m.

Panel Version: 0.72

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939

Publications

Created: 6 Mar 2021, 2:40 a.m.
Last Modified: 6 Mar 2021, 2:40 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.72

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 8, MIM# 612563
MONDO:0012939

OMIM

603658

Clinvar variants

Variants in RPS7

Penetrance

None

Publications

Panels with this gene