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  3. RPL11
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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 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, thumb abnormalities are a feature.
Created: 5 Mar 2021, 9:50 a.m. | Last Modified: 24 Apr 2021, 1:44 a.m.
Panel Version: 0.118

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938

Publications

Created: 5 Mar 2021, 9:50 a.m.
Last Modified: 24 Apr 2021, 1:44 a.m.
Panel version: Imported from Radial Ray Abnormalities panel version Imported from Diamond Blackfan anaemia panel version 0.43

George McGillivray (Victorian Clinical Genetics Services)

Red List (low evidence)

I can't find a published link between RPL11 and hydrops fetalis.
However, there are 8 Case reports of DBA (molecular type not specified) with hydrops fetalis so this gene/ DBA phenotype should be revisited in future
PMIDs 8926615;8734811;8734811;9166327;3140685;14655096;3222219;15004307;17828794
Sources: Expert list
Created: 30 Dec 2019, 1:23 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 7

Created: 30 Dec 2019, 1:23 p.m.

Panel version: Imported from Hydrops fetalis panel version 0.100

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Diamond-Blackfan anemia with cleft palate and abnormal thumbs
  • Diamond-Blackfan anaemia 7, MIM# 612562
  • MONDO:0012938
OMIM
604175
Clinvar variants
Variants in RPL11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl11 has been classified as Green List (High Evidence).

28 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RPL11 were changed from Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Diamond-Blackfan anemia 7 612562 to Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Diamond-Blackfan anaemia 7, MIM# 612562; MONDO:0012938

28 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL11 were set to

28 Feb 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RPL11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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; Diamond-Blackfan anemia 7 612562