Early onset or syndromic epilepsy
Gene: DDX3X
XLD/XLR MR 102. Snidjers Blok et al, 2015 - 38 families with mild to severe ID and neurological features where epilepsy was seen in 6/38 femles (16%). Testing in 3 males - vriants detected - non reported to have seizures. Wang et al, 2018 - 44 females, 3 males - variants detected - no mention in pper of epilepsy/seizure phenotype. In the supplementary info 1/12 patients in whom they had detailed clinical info had generalised tonic seizures ad another one had an EEG shownig diffuse slowing.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
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
Mental retardation, 300958
Publications
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.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: OMIM and Gene2Phenotype list MOI as both XLR and XLD.Created: 22 Nov 2018, 2:42 p.m.
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.Created: 22 Nov 2018, 2:41 p.m.
Snijders Blok et al. 2015 (PMID:26235985) present 35 unique deleterious de novo variants in DDX3X identified by WES in 38 females with ID and various other features. 6/38 indidivudals (16%) showed epilepsy (supplementary material: Individuals 7, 15,16,21,32,37 all of which had different DDX3X variants).Created: 22 Nov 2018, 2:38 p.m.
XL dominant. Seizures present in 16% in one case series.Created: 12 Aug 2018, 6:12 a.m.
Mode of inheritance
Other
Phenotypes
Mental retardation, X-linked, MIM#300958
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
Source Wessex and West Midlands GLH was added to DDX3X.
Source NHS GMS was added to DDX3X.
Zornitza Stark: XL dominant. Seizures present
Gene: ddx3x has been classified as Green List (High Evidence).
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)
Gene: ddx3x has been classified as Green List (High Evidence).
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)
Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, 300958
Expert Review Amber was added to DDX3X. Panel: Genetic Epilepsy Syndromes
DDX3X was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
DDX3X was created by Sarah Leigh