This Panel is marked as Internal
Anaemias and red cell disorders
Gene: RPL5
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 9 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 6, 612561
- Diamond_Blackfan Anemia 6
- DIAMOND-BLACKFAN ANEMIA 6
- OMIM
- 603634
- Clinvar variants
- Variants in RPL5
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
22 Jul 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RPL5 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
22 Jul 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RPL5 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPL5 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPL5 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPL5 was created by ellenmcdonagh