Gastrointestinal neuromuscular disorders
Gene: ATRXEnsemblGeneIds (GRCh38): ENSG00000085224
EnsemblGeneIds (GRCh37): ENSG00000085224
OMIM: 300032, Gene2Phenotype
ATRX is in 13 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Expert review green and current diagnostic. Confirmed DD gene for Alpha-thalassemia mental retardation syndrome X-linked non deletion type and mental retardation syndromic X-linked with hypotonic facies syndrome Type 1. Multiple cases/families with Alpha-thalassemia/mental retardation syndrome reported in OMIM for different variants.Created: 19 Oct 2016, 8:37 a.m.
Neil shah (GOSH)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- 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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Alpha-thalassemia/mental retardation syndrome 301040
- OMIM
- 300032
- Clinvar variants
- Variants in ATRX
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- IUGR and IGF abnormalities
- Rare anaemia
- Gastrointestinal neuromuscular disorders
- Early onset or syndromic epilepsy
- Fetal anomalies
- Differences in sex development
- Clefting
- Severe microcephaly
- Monogenic short stature
- Osteogenesis imperfecta
- Intellectual disability
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATRX were set to Alpha-thalassemia/mental retardation syndrome 301040
Added New Source
Sarah Leigh (Genomics England Curator)ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)ATRX was created by sleigh