AutismKB

Evidence Detail for ATRX


View Evidences View Annotations
Basic Information Top
Gene Symbol:ATRX ( ATR2,MGC2094,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX )
Gene Full Name: alpha thalassemia/mental retardation syndrome X-linked
Band: Xq21.1
Quick LinksEntrez ID:546; OMIM: 300032; Uniprot ID:ATRX_HUMAN; ENSEMBL ID: ENSG00000085224
Sequences Top
>ATRX|546|nucleotide
Show »

>ATRX|546|protein
Show »

Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 7 (1)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceXL
OMIMAlpha-thalassemia/mental retardation syndrome (301040)
DescriptionLarge spectrum of phenotypes including ATRX syndrome (alpha thalassemia/mental retardation syndrome X-linked) and non-syndromic X-linked ID
Reference(s)16722615; 20500465; -;
LevelLevel 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Gong, 2008_1 human ---ASD X chromosome inactivation (XCI) screen
  • Subjects: 543 mothers and 163 affected girls
  • Normal Controls: 144 adult females and 40 young females
  • Methods: X chromosome inactivation (XCI) screen
  • Evidence Details: Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations.
Large Scale Expression Studies Top
CNV Studies Top
Linkage Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Quick Search:


  (e.g. CDH8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF