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Prepair 1000+

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 11 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment on mode of inheritance: X-linked dominant, females can be severely affected
Created: 8 Aug 2024, 4:56 a.m. | Last Modified: 8 Aug 2024, 4:56 a.m.
Panel Version: 1.139
Created: 8 Aug 2024, 4:56 a.m.
Last Modified: 8 Aug 2024, 4:56 a.m.
Panel version: 1.139

Lauren Rogers (Victorian Clinical Genetics Services)

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. Clinical features include developmental delay, hypotonia, and some behavioral abnormalities, such as aggression.
Created: 31 Jul 2024, 6:44 a.m. | Last Modified: 31 Jul 2024, 6:44 a.m.
Panel Version: 1.65

Phenotypes
Intellectual developmental disorder, X-linked 99, MIM#300919

Publications

Created: 31 Jul 2024, 6:44 a.m.
Last Modified: 31 Jul 2024, 6:44 a.m.
Panel version: 1.65

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
  • Mackenzie's Mission
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 developmental disorder, X-linked 99, MIM#300919 to Intellectual developmental disorder 99 MIM#300919; syndromic, female-restricted Intellectual developmental disorder 99 MIM#300968

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

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

8 Aug 2024, Gel status: 3

Set Phenotypes

Lilian Downie (Victorian Clinical Genetics Services)

Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99, 300919 (3) to Intellectual developmental disorder, X-linked 99, MIM#300919

8 Aug 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: USP9X were set to

8 Aug 2024, Gel status: 3

Set mode of inheritance

Lilian Downie (Victorian Clinical Genetics Services)

Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

8 Aug 2024, Gel status: 3

Set mode of inheritance

Lilian Downie (Victorian Clinical Genetics Services)

Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mental retardation, X-linked 99, 300919 (3) for gene: USP9X

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: USP9X was added gene: USP9X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)