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Newborns main panel

Gene: RPL5

Green List (high evidence)
RPL5 (ribosomal protein L5)
EnsemblGeneIds (GRCh38): ENSG00000122406
EnsemblGeneIds (GRCh37): ENSG00000122406
OMIM: 603634, Gene2Phenotype
RPL5 is in 9 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations - PubMed (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Diamond blackfan anaemia 6
OMIM
603634
Clinvar variants
Variants in RPL5
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond blackfan anaemia 6 for gene: RPL5

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond blackfan anaemia 6 for gene: RPL5

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond blackfan anaemia 6 for gene: RPL5

9 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RPL5. Added phenotypes Diamond blackfan anaemia 6 for gene: RPL5 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RPL5. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Diamond blackfan anaemia 6 for gene: RPL5

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RPL5 was added gene: RPL5 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown