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Red cell disorders

Gene: RPS17

Green List (high evidence)
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, 10:14 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

Created: 14 Sep 2020, 10:14 a.m.
Last Modified: 14 Sep 2020, 10:14 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • 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

History Filter Activity

17 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps17 has been classified as Green List (High Evidence).

17 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS17 were changed from Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 to Diamond-Blackfan anaemia 4, MIM# 612527

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 for gene: RPS17 Publications for gene RPS17 were updated from 19953637; 19061985; 17647292; 22045982 to 17647292; 22045982; 19953637; 19061985

15 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPS17 was added gene: RPS17 was added to Rare anaemia_GEL. Sources: North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPS17 were set to 19953637; 19061985; 17647292; 22045982 Phenotypes for gene: RPS17 were set to Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4