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  2. Intellectual_disability
  3. USP9X
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Intellectual_disability

Gene: USP9X

Red List (low evidence)
USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 9 panels

0 reviews

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
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
300072
Clinvar variants
Variants in USP9X
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

USP9X was added to Intellectual_disabilitypanel. Sources: Known gene (Grozeva et al, 2015)