Clefting
Gene: USP9X
USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 9 panels
1 review
Sarah Leigh (Genomics England Curator)
Sufficient evidence for this gene to be rated green, with phenotype relevant for this panel (Helen Britain, Genomics England)Created: 7 Aug 2018, 10:09 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)
Phenotypes
Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968
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
- Literature
- Phenotypes
-
- Mental retardation, X-linked 99 300919 XLR
- Mental retardation, X-linked 99, syndromic, female-restricted 300968
- OMIM
- 300072
- Clinvar variants
- Variants in USP9X
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
7 Aug 2018, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: usp9x has been classified as Green List (High Evidence).
7 Aug 2018, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)USP9X was added to Clefting panel. Sources: Literature
7 Aug 2018, Gel status: 1
Created
Sarah Leigh (Genomics England Curator)USP9X was created by Sarah Leigh