| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Choanal atresia v1.6 | USP9X | Ain Roesley Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.18 | USP9X | Zornitza Stark Marked gene: USP9X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.18 | USP9X | Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.18 | USP9X | Zornitza Stark Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, syndromic, female-restricted MIM#300968; MONDO:0010502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.17 | USP9X | Zornitza Stark Publications for gene: USP9X were set to 26833328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.16 | USP9X | Zornitza Stark reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833328, 33638286, 33298948; Phenotypes: Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.1 | USP9X |
Zornitza Stark Source Genomics England PanelApp was added to USP9X. Added phenotypes Mental retardation, X-linked 99, syndromic, female-restricted 300968 for gene: USP9X |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Choanal atresia v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Choanal atresia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 26833328 Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, syndromic, female-restricted 300968 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||