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Clefting v4.12 DDX3X Achchuthan Shanmugasundram changed review comment from: PMID:26235985 - Patients with DDX3X variants 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 - A female patient with DDX3X variant (c.856G>A/ p.Gly286Ser) and reported with severe ID and ataxic gait also had cleft uvula.; to: 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.
Clefting v4.12 DDX3X Achchuthan Shanmugasundram edited their review of gene: DDX3X: Changed rating: AMBER
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Deleted their comment
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DDX3X.
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Deleted their comment
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Classified gene: DDX3X as Amber List (moderate evidence)
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases associating this gene with cleft lip and/ or palate. Hence, this gene can be promoted to green rating at the next major update.
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Classified gene: DDX3X as Amber List (moderate evidence)
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated cases associating this gene with cleft lip and/ or palate. Hence, this gene can be promoted to green rating at the next major update.
Clefting v4.12 DDX3X Achchuthan Shanmugasundram Gene: ddx3x has been classified as Amber List (Moderate Evidence).
Clefting v4.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Clefting v4.11 DDX3X Achchuthan Shanmugasundram Tag Q3_23_promote_green tag was added to gene: DDX3X.
Clefting v4.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Clefting v4.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were set to 26235985; 27159028; 37010288
Clefting v4.11 DDX3X Achchuthan Shanmugasundram Publications for gene: DDX3X were set to
Clefting v4.10 DDX3X Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235985, 27159028, 37010288; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Clefting v3.3 DDX3X Arina Puzriakova 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
Clefting DDX3X Louise Daugherty commented on DDX3X
Clefting DDX3X Helen Brittain reviewed DDX3X