Diamond Blackfan anaemia
Gene: RPS17EnsemblGeneIds (GRCh38): ENSG00000182774
EnsemblGeneIds (GRCh37): ENSG00000182774
OMIM: 180472, Gene2Phenotype
RPS17 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 10:14 a.m. | Last Modified: 14 Sep 2020, 10:14 a.m.
Panel Version: 0.21
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 4, MIM# 612527
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diamond-Blackfan anemia 4, MIM# 612527
- OMIM
- 180472
- Clinvar variants
- Variants in RPS17
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rps17 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RPS17 were changed from to Diamond-Blackfan anemia 4, MIM# 612527
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RPS17 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RPS17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPS17 was added gene: RPS17 was added to Diamond Blackfan anaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RPS17 was set to Unknown