Clefting
Gene: DDX3X
PMID:26235985 - 38 female and three male patients with DDX3X variants were reported from multiple studies including the Deciphering Developmental Disorders (DDD) study, of which three females had cleft lip and/ or palate (one from the DDD study) and one male had bifid uvula.
PMID:27159028 - Two female patients were reported with DDX3X variants, of which one of them reported with severe ID and ataxic gait (c.856G>A/ p.Gly286Ser) also had cleft uvula.Created: 15 Jun 2023, 11:03 a.m. | Last Modified: 15 Jun 2023, 6:47 p.m.
Panel Version: 4.12
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, OMIM:300958
Publications
Comment on mode of inheritance: Changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)- gene is encoded on Xp11.4Created: 25 Sep 2017, 9:34 a.m.
Causations is clear for ID. Clefting does not seem to be a consistent featureCreated: 26 May 2017, 7:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, X-LINKED 102; MRX102
Tag Q3_23_promote_green was removed from gene: DDX3X.
Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Tag Q3_23_promote_green tag was added to gene: DDX3X.
Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Publications for gene: DDX3X were set to
Phenotypes for gene: DDX3X were changed from MENTAL RETARDATION, X-LINKED 102; MRX102 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Mode of inheritance for DDX3X was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
DDX3X was added to Cleftingpanel. Sources: Expert Review Amber
DDX3X was created by ellenmcdonagh