Epileptic encephalopathy
Gene: ATRXComment on mode of inheritance: After discussion with reviewer, this should be biallelic (recessive). This is also confirmed in gene2phenotype with a hemizygous mode of inheritance.Created: 17 Dec 2015, 12:49 p.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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
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, 1:13 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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
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
Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Phenotypes for ATRX were set to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Publications for ATRX were set to Gibbons et al (1995) Cell 80: 837-845; Stevenson et al (2000) Am J Med Genet 94: 383-385
Mode of inheritance for ATRX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
The Gel status was updated for this whole panel
ATRX was added to Epileptic encephalopathypanel. Sources: Expert Review Green
The Gel status was updated for this whole panel
ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert