DDX3X

DEAD-box helicase 3, X-linked
OMIM: 300160, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green DDX3X in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Amber DDX3X in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.65	review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked 102, MIM# 300958
Green DDX3X in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Green DDX3X in Mendeliome Version 1.1902	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Green DDX3X in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.269	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)
Green DDX3X in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Green DDX3X in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genetic Health Queensland Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Amber DDX3X in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.252	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes MRX102 MENTAL RETARDATION, X-LINKED 102
Green DDX3X in Fetal anomalies Version 1.255	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Genomics England PanelApp Phenotypes Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type MIM# 300958
Green DDX3X in Speech apraxia Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert Review Expert list Phenotypes Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958