Clefting disorders
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

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Five unrelated individuals with USP9X-related neurodevelopmental disorder (female-restricted) and cleft palate
Created: 10 Feb 2021, 12:08 a.m. | Last Modified: 10 Feb 2021, 12:08 a.m.

Panel Version: 0.95

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
300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED

Publications

26833328

Created: 10 Feb 2021, 12:08 a.m.
Last Modified: 10 Feb 2021, 12:08 a.m.
Panel version: 0.95

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

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

26833328

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 Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968

10 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USP9X was added gene: USP9X was added to Clefting_GEL. Sources: Expert Review Green,Literature Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 26833328 Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968

Clefting disorders Gene: USP9X