ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
17363630 Sebat et al. (2007) identified a de novo intragenic deletion of SLC4A10 in a set of monozygotic twins concordant for autism.

Haploinsufficiency phenotype comments:

Loss of function mutations of SLC4A10 result in neurological disorders including autism, epilepsy, and intellectual disability. Gurnett et al. (2008) reported a de novo balanced translocation that disrupted the coding region of SLC4A10 on chromosome 2 and no genes on chromosome 13. The patient had complex partial epilepsy and moderate intellectual disability (PMID:18413482).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity