Epileptic encephalopathy
Gene: ARXComment on mode of inheritance: The revised mode of inheritance fits with gene2phenotype of hemizygous inheritance for this disorder.Created: 17 Dec 2015, 12:32 p.m.
Comment on mode of inheritance: Discussion with reviewer determined that females require two mutations to develop this disorder (X-linked recessive).Created: 17 Dec 2015, 11:43 a.m.
Where females manifest it would be due to x-skewing. Is this the right option?Created: 12 Nov 2015, 1:50 p.m.
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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Where females manifest it would be due to x-skewing. Is this the right option?Created: 12 Nov 2015, 1:14 p.m.
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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Where females manifest it would be due to x-skewing. Is this the right option?Created: 12 Nov 2015, 1:04 p.m.
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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Where females manifest it would be due to x-skewing. Is this the right option?Created: 12 Nov 2015, 12:26 p.m.
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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ARX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for ARX were set to Tsurusaki et al (2002) Nature 30: 441-445; Kato et al (2004) Hum Mut 23: 147-159; Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991; Partington et al (1998) Am J Med Genet 30: 251-262; Kato et al (2004) Hum Mut 23: 147-159
Mode of inheritance for ARX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
ARX was added to Epileptic encephalopathypanel. Sources: Expert Review Green
ARX was added to Epileptic encephalopathypanel. Sources: Expert Review Green
ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert
ARX was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert