Skeletal dysplasia
Gene: RPL13Comment on phenotypes: RPL13 is now associated with a relevant phenotype in OMIM - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, MIM# 618728Created: 21 Jun 2021, 3:36 p.m. | Last Modified: 21 Jun 2021, 3:36 p.m.
Panel Version: 2.104
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: LiteratureCreated: 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
Phenotypes for gene: RPL13 were changed from Spondyloepimetaphyseal Dysplasia with Severe Short Stature to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
Gene: rpl13 has been classified as Green List (High Evidence).
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