Evidence Detail for SLC6A8

View Evidences View Annotations
Basic Information Top
Gene Symbol:SLC6A8 ( CRT,CRTR,CT1,MGC87396 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Band: Xq28
Quick LinksEntrez ID:6535; OMIM: 300036; Uniprot ID:SC6A8_HUMAN; ENSEMBL ID: ENSG00000130821
Sequences Top
Show »

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) 2 (3) 14 (3)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
OMIMCreatine deficiency syndrome, X-linked (300352)
DescriptionCreatine deficiency syndrome; non-syndromic ID. Brain creatine deficiency can be caused by mutation in the creatine transporter gene SLC6A8, or by defects in the biosynthesis of creatine (GAMT and GATM genes); mutations in all three genes have been reported in ASD; ASD/autistic features appear to be frequent in creatine deficiency syndromes
Reference(s)12210795; 17101918; 16601898; 19165619; 19319661;
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
Poo-Arguelles, 2006_1 human ---- case report
  • Subjects: 2
  • Normal Controls: -
  • Methods: DNA sequence analysis
  • Evidence Details: Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878-879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222-1224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively).
Newmeyer, 2007_1 human -ASD genetics: mutation screen
  • Subjects: 100 male( ages 3-18)
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: DNA sequence analysis was performed on all subjects for creatine transporter gene (SLC6A8) defects. One subject had a novel unclassified variant in the SLC6A8 gene exon 13: c.1890G>C.
Piton, 2010_1 human bloodASD genetics: mutation screen
  • Subjects: 142( 122 males and 20 females)
  • Normal Controls: -
  • Methods: direct sequencing
  • Evidence Details: Exonic variants identified during the the screening of the 200 X-linked synapic genes
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. NLGN4X)

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