Pigmentary skin disorders
Gene: DDX3XThe 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 (confirmed). There is enough evidence to support a gene-disease association. It should be noted that not all patient develops skin pigmentation anomalies; however, there are >3 unrelated cases. This gene should be rated Green at the next review.Created: 22 Nov 2021, 3:41 p.m. | Last Modified: 22 Nov 2021, 3:41 p.m.
Panel Version: 1.22
Sources: Expert listCreated: 21 Oct 2021, 3:47 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, SYNDROMIC, SNIJDERS BLOK TYPE
Publications
Tag Q4_21_rating was removed from gene: DDX3X. Tag Q4_21_NHS_review was removed from gene: DDX3X.
Source Expert Review Green was added to DDX3X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: DDX3X.
Tag Q4_21_NHS_review tag was added to gene: DDX3X.
Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DDX3X were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958
gene: DDX3X was added gene: DDX3X was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: DDX3X 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: DDX3X were set to 30349862 Phenotypes for gene: DDX3X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE Penetrance for gene: DDX3X were set to unknown Review for gene: DDX3X was set to GREEN