This Panel is marked as Retired
Epilepsy Plus
Gene: ATRX
ATRX (ATRX, chromatin remodeler)
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
0 reviews
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
8 Sep 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ATRX was added to Epilepsy Pluspanel. Sources: UKGTN,Expert,Expert Review Green
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ATRX was created by ellenmcdonagh