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Newborns main panel

Gene: RPL18

Amber List (moderate evidence)
RPL18 (ribosomal protein L18)
EnsemblGeneIds (GRCh38): ENSG00000063177
EnsemblGeneIds (GRCh37): ENSG00000063177
OMIM: 604179, Gene2Phenotype
RPL18 is in 3 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
PMID: 28280134 - 1 case
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 Amber
Phenotypes
  • Diamond-Blackfan anaemia 18
OMIM
604179
Clinvar variants
Variants in RPL18
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: RPL18 were changed from Diamond-Blackfan anemia 18 to Diamond-Blackfan anaemia 18

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RPL18. Added phenotypes Diamond-Blackfan anemia 18 for gene: RPL18 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RPL18. Added phenotypes Diamond-Blackfan anemia 18 for gene: RPL18 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RPL18. Added phenotypes Diamond-Blackfan anemia 18 for gene: RPL18 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 RPL18. Added phenotypes Diamond-Blackfan anemia 18 for gene: RPL18 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RPL18 was added gene: RPL18 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown