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Fetal anomalies

Gene: RPL11

Green List (high evidence)

RPL11 (ribosomal protein L11)
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 11 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for Diamond-Blackfan anemia with cleft palate and abnormal thumbs. Confirmed for Diamond-Blackfan anemia 7 612562 from Additional Gene list.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, no MOI was recorded for Diamond-Blackfan anemia with cleft palate and abnormal thumbs. In the original PAGE file, no MOP was recorded for Diamond-Blackfan anemia with cleft palate and abnormal thumbs.
Created: 8 Nov 2018, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE Additional Gene List
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • Diamond-Blackfan anemia 7 612562
  • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
OMIM
604175
Clinvar variants
Variants in RPL11
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Added New Source, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Source PAGE Additional Gene List was added to RPL11. Added phenotypes Diamond-Blackfan anemia 7 612562 for gene: RPL11

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: RPL11 was added gene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs