Differences in sex development
Gene: RPL10
RPL10 (ribosomal protein L10)
EnsemblGeneIds (GRCh38): ENSG00000147403
EnsemblGeneIds (GRCh37): ENSG00000147403
OMIM: 312173, Gene2Phenotype
RPL10 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000147403
EnsemblGeneIds (GRCh37): ENSG00000147403
OMIM: 312173, Gene2Phenotype
RPL10 is in 10 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
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, 10:15 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
- Literature
- Phenotypes
-
- Mental retardation, X-linked, syndromic, 35 300998
- OMIM
- 312173
- Clinvar variants
- Variants in RPL10
- Penetrance
- Complete
- Publications
- Panels with this gene
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 Disorders of sex developmentpanel. Sources: Literature
5 Sep 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)RPL10 was created by sleigh