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  3. RPL11
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Hydrops fetalis

Gene: RPL11

Red List (low evidence)
RPL11 (ribosomal protein L11)
EnsemblGeneIds (GRCh38): ENSG00000142676
EnsemblGeneIds (GRCh37): ENSG00000142676
OMIM: 604175, Gene2Phenotype
RPL11 is in 14 panels

1 review

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: 0.100

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl11 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl11 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 0

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

George McGillivray (Victorian Clinical Genetics Services)

gene: RPL11 was added gene: RPL11 was added to Hydrops fetalis_VCGS. Sources: Expert list Mode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7 Review for gene: RPL11 was set to RED