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Red cell disorders

Gene: RPS7

Green List (high evidence)
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
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
  • 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

History Filter Activity

16 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps7 has been classified as Green List (High Evidence).

16 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPS7 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 to Diamond-Blackfan anaemia 8, MIM# 612563; MONDO:0012939

16 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPS7 were set to 19061985; 27882484; 23718193

15 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 for gene: RPS7

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: RPS7 was added gene: RPS7 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS7 were set to 19061985; 27882484; 23718193 Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, 612563; 612563 Diamond-Blackfan anemia 8; Diamond-Blackfan Anemia; 612563 Diamond_Blackfan Anemia 8; Inherited Bone Marrow Failure Syndromes; Diamond_Blackfan Anemia 8; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 8