Disorders of sex developmentGene: RPL10
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.
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
Mental retardation, X-linked, syndromic, 35 300998
This gene has been classified as Green List (High Evidence).
RPL10 was added to Disorders of sex developmentpanel. Sources: Literature
RPL10 was created by sleigh