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  2. Bone Marrow Failure
  3. RPL18
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Bone Marrow Failure

Gene: RPL18

Amber List (moderate evidence)
RPL18 (ribosomal protein L18)
EnsemblGeneIds (GRCh38): ENSG00000063177
EnsemblGeneIds (GRCh37): ENSG00000063177
OMIM: 604179, Gene2Phenotype
RPL18 is in 5 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

One family and a zebrafish model.
Sources: Expert list
Created: 12 Dec 2023, 11:35 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond-Blackfan anemia 18, MIM# 618310

Publications

Created: 12 Dec 2023, 11:35 p.m.

Panel version: 1.72

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond-Blackfan anemia 18, MIM# 618310
OMIM
604179
Clinvar variants
Variants in RPL18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl18 has been classified as Amber List (Moderate Evidence).

12 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: rpl18 has been classified as Amber List (Moderate Evidence).

12 Dec 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RPL18 was added gene: RPL18 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPL18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL18 were set to PMID: 28280134, 32075953 Phenotypes for gene: RPL18 were set to Diamond-Blackfan anemia 18, MIM# 618310 Review for gene: RPL18 was set to AMBER