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Rare anaemia

Gene: RPL18

Amber List (moderate evidence)
RPL18 (ribosomal protein L18)
EnsemblGeneIds (GRCh38): ENSG00000063177
EnsemblGeneIds (GRCh37): ENSG00000063177
OMIM: 604179, Gene2Phenotype
RPL18 is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Consensus Genes for Panels 17.12.18_Haem_WWMGLH_v3.xlxs) collated by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group. Gene Symbol submitted: RPL18; Suggested intial gene rating: I don't know; Are variants in this gene part of your current diagnostic practice? No; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Phenotypes: Diamond-Blackfan anaemia; PMID(s): 28280134
Created: 6 Feb 2019, 12:14 p.m.
Created: 6 Feb 2019, 12:14 p.m.

Panel version: 0.6

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Gene rating submitted by Carl Fratter Oxford Medical Genetics Laboratories January 2019 on behalf of Wessex and the West Midlands GLH for the GMS Haematology specialist test group.
Created: 6 Feb 2019, 12:13 p.m.
Created: 6 Feb 2019, 12:13 p.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Amber
  • Wessex and West Midlands GLH
Phenotypes
  • Diamond-Blackfan anaemia
OMIM
604179
Clinvar variants
Variants in RPL18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to RPL18.

6 Feb 2019, Gel status: 2

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Amber was added to RPL18. Mode of inheritance for gene RPL18 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anaemia for gene: RPL18 Publications for gene RPL18 were changed from to 28280134 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

6 Feb 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: RPL18 was added gene: RPL18 was added to Rare anaemia. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: RPL18 was set to