Choanal atresiaGene: USP9X
Comment on phenotypes: Variants also associated with Mental retardation, X-linked 99 300919 in males
Created: 31 Jul 2018, 2:55 p.m.
Multi-system developmental disorder in females, of which choanal atresia is a key feature.
Created: 25 Jul 2018, 10:52 a.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)
Variants in this GENE are reported as part of current diagnostic practice
Mode of pathogenicity for gene: USP9X was changed to None
Source Other was removed from USP9X. Panel: Choanal atresia Expert list was added to USP9X. Panel: Choanal atresia Phenotypes for gene USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968
Publications for gene: USP9X were set to 26833328
Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968
Gene: usp9x has been classified as Green List (High Evidence).
USP9X was added to Choanal atresia panel. Sources: Other
USP9X was created by Katharina Steindl