IUGR and IGF abnormalities

Gene: RPL10

Green List (high evidence)

RPL10 (ribosomal protein L10)
EnsemblGeneIds (GRCh38): ENSG00000147403
EnsemblGeneIds (GRCh37): ENSG00000147403
OMIM: 312173, Gene2Phenotype
RPL10 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families, all with female carriers showing fully skewed X inactivation of the variant-bearing X chromosome. Supportive functional evidence also presented.
5 Sep 2017, 10:16 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Mental retardation, X-linked, syndromic, 35 300998

Publications

Details

History Filter Activity

5 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

RPL10 was added to IUGR and IGF abnormalitiespanel. Sources: Literature

5 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

RPL10 was created by sleigh