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Red cell disorders

Gene: RPL5

Green List (high evidence)
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 5 Mar 2021, 10:20 a.m. | Last Modified: 5 Mar 2021, 10:20 a.m.
Panel Version: 0.53

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937

Publications

Created: 5 Mar 2021, 10:20 a.m.
Last Modified: 5 Mar 2021, 10:20 a.m.
Panel version: Imported from Diamond Blackfan anaemia panel version 0.56

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 anemia 6, MIM# 612561
  • MONDO:0012937
OMIM
603634
Clinvar variants
Variants in RPL5
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: rpl5 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: RPL5 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 612561 Diamond-Blackfan anemia 6; Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6 to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937

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; 612561 Diamond-Blackfan anemia 6; Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6 for gene: RPL5

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: RPL5 was added gene: RPL5 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: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL5 were set to 19061985 Phenotypes for gene: RPL5 were set to Diamond-Blackfan Anemia; Diamond_Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia 6; 612561 Diamond-Blackfan anemia 6; DIAMOND-BLACKFAN ANEMIA 6; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 6, 612561; Diamond Blackfan anemia