Polydactyly
Gene: USP9XEnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 11 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Polydactyly is a feature of the female-restricted phenotype.Created: 21 Jul 2020, 9:05 p.m. | Last Modified: 21 Jul 2020, 9:05 p.m.
Panel Version: 0.151
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968
Anand Vasudevan (Royal Women's Hospital)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Intellectual developmental disorder 99 MIM#300919
- syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
- OMIM
- 300072
- Clinvar variants
- Variants in USP9X
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: USP9X were changed from Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Set Phenotypes
Ain Roesley (Victorian Clinical Genetics Services)Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: usp9x has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: USP9X were changed from to Mental retardation, X-linked 99, syndromic, female-restricted, MIM# 300968
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: USP9X was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: USP9X was added gene: USP9X was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: USP9X was set to Unknown