This Panel is marked as Internal
Anaemias and red cell disorders
Gene: RPS24
RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 8 panels
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Diamond Blackfan anemia
- Diamond-Blackfan Anemia
- Diamond-blackfan anemia 3, 610629
- Diamond_Blackfan Anemia 3
- DIAMOND-BLACKFAN ANEMIA 3
- OMIM
- 602412
- Clinvar variants
- Variants in RPS24
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
22 Jul 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RPS24 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)RPS24 was added to Anaemias and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services RPS24 was added to Anaemias and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
22 Jul 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)RPS24 was created by ellenmcdonagh
22 Jul 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RPS24 was added to Anaemias and red cell disorderspanel. Sources: UKGTN,Expert list