ClinGen Dosage Sensitivity Curation Page

1 copy: 6p telomere | 3 copies: 6p telomere

  • Curation Status: Complete


Location Information

Select assembly: (NC_000006.11) ()
  • Haploinsufficiency score: Haploinsufficiency unlikely
  • Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

This genomic region contains one coding gene, DUSP22. Reports of 6p subtelomere deletions associated with a clinical phenotype are usually much larger regions. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

This genomic region contains one coding gene, DUSP22. Variants in the region chr6:230,527-378,628 are common in the public CNV databases of (presumably) 'normal' controls.