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Early onset or syndromic epilepsy v3.15 DDX3X Arina Puzriakova Phenotypes for gene: DDX3X were changed from Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
Early onset or syndromic epilepsy v1.191 DDX3X Rebecca Foulger Source Wessex and West Midlands GLH was added to DDX3X.
Early onset or syndromic epilepsy v1.190 DDX3X Rebecca Foulger Source NHS GMS was added to DDX3X.
Early onset or syndromic epilepsy v1.189 DDX3X Rebecca Foulger edited their review of gene: DDX3X: Added comment: Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 DDX3X Tracy Lester reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235985; Phenotypes: Mental retardation, 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)
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Marked gene: DDX3X as ready
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Gene: ddx3x has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Added comment: Comment on mode of inheritance: OMIM and Gene2Phenotype list MOI as both XLR and XLD.
Early onset or syndromic epilepsy v0.1071 DDX3X Rebecca Foulger Mode of inheritance for gene: DDX3X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1070 DDX3X Rebecca Foulger Classified gene: DDX3X as Green List (high evidence)
Early onset or syndromic epilepsy v0.1070 DDX3X Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P for X-linked intellectual disability. MIM:300958 disease includes seizures in some patients. 6 females in PMID:26235985 with 6 different DDX3X variants showed seizures (16%). Therefore sufficient cases for diagnostic rating.
Early onset or syndromic epilepsy v0.1070 DDX3X Rebecca Foulger Gene: ddx3x has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1069 DDX3X Rebecca Foulger Mode of inheritance for gene: DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v0.1068 DDX3X Rebecca Foulger commented on gene: DDX3X
Early onset or syndromic epilepsy v0.1068 DDX3X Rebecca Foulger Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, 300958
Early onset or syndromic epilepsy DDX3X Zornitza Stark reviewed gene: DDX3X
Early onset or syndromic epilepsy DDX3X Sarah Leigh Added gene to panel