Genes in panel
STRs in panel
Prev Next

Inborn errors of metabolism

Gene: RPL10

Green List (high evidence)

RPL10 (ribosomal protein L10)
EnsemblGeneIds (GRCh38): ENSG00000147403
EnsemblGeneIds (GRCh37): ENSG00000147403
OMIM: 312173, Gene2Phenotype
RPL10 is in 9 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.
Created: 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

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked, syndromic, 35
OMIM
312173
Clinvar variants
Variants in RPL10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RPL10 was added gene: RPL10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35