Skeletal dysplasia
Gene: USP9X

USP9X (ubiquitin specific peptidase 9, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 11 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Gene-disease relationship is well-established. There are XLD (female-restricted) and XLR phenotypes.

Many (at least 17) females with de novo loss-of-function variants reported with a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations (PMID:26833328). Males are not reported with these variants (presumed embryonic lethal, as is the case in null mice).

Affected males (at least 12) have been reported with partial loss of function missense variants (PMID:31443933). Unaffected female carriers were reported in some of these families.
Created: 24 Nov 2020, 6:05 a.m. | Last Modified: 24 Nov 2020, 6:05 a.m.

Panel Version: 0.5407

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, XLR (MIM#300919) and XLD (MIM#300968)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 24 Nov 2020, 6:05 a.m.
Last Modified: 24 Nov 2020, 6:05 a.m.
Panel version: Imported from Mendeliome panel version 0.5407

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

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

Publications

Panels with this gene

History Filter Activity

3 Oct 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: USP9X were changed from intellectual disability, X-linked 99 MONDO:0010487 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968

6 Sep 2022, Gel status: 3