Genomics England
GMS Panels
Panels
Genes and Entities

RPL13

ribosomal protein L13
OMIM: 113703
PanelMode of inheritanceDetails
2 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728