Pigmentary skin disorders
Gene: USP9XEnsemblGeneIds (GRCh38): ENSG00000124486
EnsemblGeneIds (GRCh37): ENSG00000124486
OMIM: 300072, Gene2Phenotype
USP9X is in 9 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 2:35 p.m. | Last Modified: 9 Mar 2022, 2:35 p.m.
Panel Version: 1.42
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association, this gene should be rated Green at the next review.Created: 30 Nov 2021, 1:30 p.m. | Last Modified: 30 Nov 2021, 1:30 p.m.
Panel Version: 1.37
Tom Cullup (Great Ormond Street Hospital)
Sources: Expert listCreated: 21 Oct 2021, 3:44 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
INTELLECTUAL DEVELOPMENTAL DISORDER, 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
- Phenotypes
-
- Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968
- OMIM
- 300072
- Clinvar variants
- Variants in USP9X
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_21_rating was removed from gene: USP9X. Tag Q4_21_NHS_review was removed from gene: USP9X.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to USP9X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q4_21_rating tag was added to gene: USP9X. Tag Q4_21_NHS_review tag was added to gene: USP9X.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: usp9x has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968; Intellectual developmental disorder, X-linked 99, OMIM:300072 to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: USP9X were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968; Intellectual developmental disorder, X-linked 99, OMIM:300072
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tom Cullup (Great Ormond Street Hospital)gene: USP9X was added gene: USP9X was added to Pigmentary skin disorders. Sources: Expert list 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 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED Penetrance for gene: USP9X were set to unknown Review for gene: USP9X was set to GREEN