Epileptic encephalopathy
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Comment 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.
Amy McTague (UCL Institute of Child Health)
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
- Gibbons et al (1995) Cell 80: 837-845
- Stevenson et al (2000) Am J Med Genet 94: 383-385
Variants in this GENE are reported as part of current diagnostic practice
Natalie Trump (NHS - Great Ormond Street Hospital)
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
- Gibbons et al (1995) Cell 80: 837-845
- Stevenson et al (2000) Am J Med Genet 94: 383-385
Variants in this GENE are reported as part of current diagnostic practice
Manju Kurian (UCL-Institute of Child Health)
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
- Gibbons et al (1995) Cell 80: 837-845
- Stevenson et al (2000) Am J Med Genet 94: 383-385
Variants in this GENE are reported as part of current diagnostic practice
Richard Scott (North Thames GMC/UCL)
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
- Gibbons et al (1995) Cell 80: 837-845
- Stevenson et al (2000) Am J Med Genet 94: 383-385
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Phenotypes
-
- Alpha-thalassemia/mental retardation syndrome
- Mental retardation-hypotonic facies syndrome, X-linked
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- Complete
- Publications
-
- Gibbons et al (1995) Cell 80: 837-845
- Stevenson et al (2000) Am J Med Genet 94: 383-385
- Panels with this gene
-
- Osteogenesis imperfecta
- Intellectual disability
- Rare anaemia
- IUGR and IGF abnormalities
- Early onset or syndromic epilepsy
- Cytopenias and congenital anaemias
- Severe microcephaly
- Clefting
- Gastrointestinal neuromuscular disorders
- Differences in sex development
- Fetal anomalies
- DDG2P
- Monogenic short stature
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ATRX were set to Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked
Set publications
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ATRX was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
gel status update
GEL ()The Gel status was updated for this whole panel
Upload gene information
Ellen McDonagh (Genomics England Curator)ATRX was added to Epileptic encephalopathypanel. Sources: Expert Review Green
gel status update
GEL ()The Gel status was updated for this whole panel
Added New Source
Ellen McDonagh (Genomics England Curator)ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)ATRX was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert