IBMDx study
Gene: RPL11
RPL11 (ribosomal protein L11)
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 5 Mar 2021, 9:55 a.m. | Last Modified: 5 Mar 2021, 9:55 a.m.
Panel Version: 0.174
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- IBMDx Study
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Diamond-Blackfan anemia 7, MIM# 612562
- MONDO:0012938
- OMIM
- 604175
- Clinvar variants
- Variants in RPL11
- Penetrance
- None
- Panels with this gene
-
- Pierre Robin Sequence
- Radial Ray Abnormalities
- Red cell disorders
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
- IBMDx study
- Bone Marrow Failure
- BabyScreen+ newborn screening
- Hydrops fetalis
- Diamond Blackfan anaemia
- Mandibulofacial Acrofacial dysostosis
- Intellectual disability syndromic and non-syndromic
History Filter Activity
10 Dec 2021, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RPL11 was added gene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: RPL11 was set to Unknown Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938