Limb disordersGene: USP9X
Female-restricted X-linked syndromic mental retardation-99 can include postaxial polydactyly. This gene is currently Green on multiple panels in PanelApp including the ID and Choanal atresia panel. PMID: 26833328 - postaxial polydactyly was seen in 53% of female patients (9 out of 17). The publication reports identifying de novo loss of function variants in this gene in all 17 affected patients.
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mental retardation, X-linked 99, syndromic, female-restricted
Ellen McDonagh: Female-restricted X-linked syn
Gene: usp9x has been classified as Green List (High Evidence).
Source Expert Review Green was added to USP9X. Mode of inheritance for gene USP9X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted for gene: USP9X Publications for gene USP9X were changed from to 26833328 Rating Changed from Red List (low evidence) to Green List (high evidence)
USP9X was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
USP9X was created by Ellen McDonagh