ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

  • 10q25.2-q25.3
  • GRCh37/hg19 chr10: 114,710,009-114,927,437
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr10: 112,950,247-113,167,678
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000010.10) (NC_000010.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
25363768 Iossifov I et al. sequenced exomes from 2,508 children with autistic spectrum disorder (ASD), 1,911 unaffected siblings and the parents of each family. Exome data were analyzed by 3 different institutes. They measured de novo rates in quad families (one affected and one unaffected child) over genomic positions at which all family members had ?40? sequence coverage. There were 2 de novo gene-disrupting variants in TCF7L2 were detected in 2 different probands (ASD, non-verbal IQ <90) from different families, both of these two variants were on splice-site.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity