ClinGen Dosage Sensitivity Curation Page

1 copy: 14q telomere; 3 copies: 14q telomere

  • Curation Status: Complete

Links



Location Information

  • 14q32.3
  • GRCh37/hg19 chr14: 106,050,000-107,289,540
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr14: 105,583,663-106,881,350
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000014.8) ()
  • Haploinsufficiency score: Haploinsufficiency unlikely
  • Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

Many cases in the literature describing 14q telomere/terminal deletions encompass a larger region than what is described here, and often include the distal portion of band 14q32.32. Note: There are many entries of benign deletions within the 14q telomere in the public CNV database (DGV) in 'normal' controls; however, there are limited entries that overlap MTA1, CRIP1, CRIP2, C14orf80, and TMEM121 (PMID 18288195). To date, there is no strong evidence suggesting haploinsufficiency of the 14q telomere causes a phenotype.

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

Triplosensitivity phenotype comment:

To date, there is no published evidence to suggest triplosensitivity of the 14q telomere. There are several entries of duplications involving part of this genomic region in the public CNV databases of 'normal' controls.