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Skeletal dysplasia

Gene: RPL13

Green List (high evidence)

RPL13 (ribosomal protein L13)
EnsemblGeneIds (GRCh38): ENSG00000167526
EnsemblGeneIds (GRCh37): ENSG00000167526
OMIM: 113703, Gene2Phenotype
RPL13 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on phenotypes: RPL13 is now associated with a relevant phenotype in OMIM - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, MIM# 618728
Created: 21 Jun 2021, 3:36 p.m. | Last Modified: 21 Jun 2021, 3:36 p.m.
Panel Version: 2.104

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoting this gene to green as 4 cases, one with a missense variant but 3 with splice variants that lead to an 18 amino acid insertion in the protein have been reported.
Created: 14 Nov 2019, 5:15 p.m. | Last Modified: 14 Nov 2019, 5:15 p.m.
Panel Version: 1.205
Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 31630789 - Le Caignec et al 2019 - report one de novo missense variant (c.548G>C [p.Arg183Pro]) and three de novo splice variants in RPL13, which encodes ribosomal protein RPL13, in four unrelated individuals with a rare bone dysplasia causing severe short stature. The three splice variants (c.477þ1G>T, c.477þ1G>A, and c.477þ2 T>C) result in partial intron retention, which leads to an 18-amino acid insertion.
Sources: Literature
Created: 12 Nov 2019, 11:11 p.m. | Last Modified: 14 Nov 2019, 5:16 p.m.
Panel Version: 1.205

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
OMIM
113703
Clinvar variants
Variants in RPL13
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jun 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: RPL13 were changed from Spondyloepimetaphyseal Dysplasia with Severe Short Stature to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728

14 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rpl13 has been classified as Green List (High Evidence).

12 Nov 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: RPL13 was added gene: RPL13 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL13 were set to 31630789 Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal Dysplasia with Severe Short Stature Review for gene: RPL13 was set to GREEN