This Panel is marked as Internal
Anaemias and red cell disorders
Gene: RPS19
RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 11 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
- Diamond-Blackfan Anemia
- Diamond-Blackfan anemia 1, 105650
- Diamond_Blackfan Anemia
- DIAMOND-BLACKFAN ANEMIA 1
- OMIM
- 603474
- Clinvar variants
- Variants in RPS19
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
22 Jul 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RPS19 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)RPS19 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPS19 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)RPS19 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPS19 was created by ellenmcdonagh