Clefting disorders
Gene: RPL11EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Craniofacial abnormalities, including cleft palate are a feature of DBA. However, few if any reports identified specifically supporting association between RPL11 and cleft palate.Created: 29 Jan 2021, 3:39 a.m. | Last Modified: 29 Jan 2021, 3:39 a.m.
Panel Version: 0.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond-Blackfan anemia 7, MIM# 612562
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Diamond-Blackfan anemia 7, MIM# 612562
- Cleft palate
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpl11 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RPL11 were changed from Cleft palate to Diamond-Blackfan anemia 7, MIM# 612562; Cleft palate
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: RPL11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rpl11 has been classified as Amber List (Moderate Evidence).
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 Clefting_GEL. Sources: Expert list,Expert Review Red Mode of inheritance for gene: RPL11 was set to Unknown Phenotypes for gene: RPL11 were set to Cleft palate