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  2. Hydrops fetalis
  3. RPL5
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Hydrops fetalis

Gene: RPL5

Red List (low evidence)
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Hydrops has been reported in DBA, but no specific reports identified linking this gene to hydrops.
Sources: Expert list
Created: 13 Aug 2020, 11:28 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 6, MIM# 612561

Publications

Created: 13 Aug 2020, 11:28 p.m.

Panel version: 0.151

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 6, MIM# 612561
OMIM
603634
Clinvar variants
Variants in RPL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl5 has been classified as Red List (Low Evidence).

13 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RPL5 was added gene: RPL5 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL5 were set to 20301769 Phenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6, MIM# 612561 Review for gene: RPL5 was set to RED