Pigmentary skin disorders
Gene: USP9XThe 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
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
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
Tag Q4_21_rating was removed from gene: USP9X. Tag Q4_21_NHS_review was removed from gene: USP9X.
Source Expert Review Green was added to USP9X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: USP9X. Tag Q4_21_NHS_review tag was added to gene: USP9X.
Gene: usp9x has been classified as Amber List (Moderate Evidence).
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
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
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