Evidence Detail for ATRX

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Basic Information Top
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
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Evidence Statistic Top

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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.
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

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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
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