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Limb disorders

Gene: USP9X

Green List (high evidence)

USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 8 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

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)

Phenotypes
Mental retardation, X-linked 99, syndromic, female-restricted

Publications

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
  • Mental retardation, X-linked 99, syndromic, female-restricted
  • Polydactyly
OMIM
300072
Clinvar variants
Variants in USP9X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Female-restricted X-linked syn

7 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: usp9x has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

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)

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

USP9X was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

USP9X was created by Ellen McDonagh