Fetal anomalies
Gene: RPS17

RPS17 (ribosomal protein S17)
EnsemblGeneIds (GRCh38): ENSG00000182774
EnsemblGeneIds (GRCh37): ENSG00000182774
OMIM: 180472, Gene2Phenotype
RPS17 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anaemia, reticulocytopaenia, and nearly absent erythroid progenitors in the bone marrow. Individuals show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of haemoglobin F. However, some do not exhibit these findings, and even in the same family, symptoms can vary between affected family members. At least 5 families reported with variants in this gene.
Created: 14 Sep 2020, 10:17 a.m. | Last Modified: 14 Sep 2020, 10:17 a.m.

Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 4, MIM# 612527

Publications

Created: 14 Sep 2020, 10:17 a.m.
Last Modified: 14 Sep 2020, 10:17 a.m.
Panel version: Imported from Radial Ray Abnormalities panel version 0.70

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services

Phenotypes

Diamond-Blackfan anaemia 4, MIM# 612527

OMIM

180472

Clinvar variants

Variants in RPS17

Penetrance

None

Publications

Panels with this gene