Gastrointestinal neuromuscular disorders
Gene: ATRX
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.
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for ATRX were set to Alpha-thalassemia/mental retardation syndrome 301040
ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
ATRX was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
ATRX was created by sleigh