1 copy: 14q telomere; 3 copies: 14q telomere |
- 40
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37477
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
Many cases in the literature describing 14q telomere/terminal deletions encompass a larger region than what is described here, and often include the the distal portion of band 14q32.32. The region described here contains 9 genes, MTA1, CRIP1, CRIP2, C14orf80, TMEM121, KIAA0125, ADAM6, and two long intergenic non-protein coding RNAs, LINC00226, and LINC00221. Engels et al 2012 (PMID 22367666) proposes MTA1, CRIP2, and TMEM121 as "promosing" candidate genes for intellectual disability (ID) in patients with 14q terminal deletions, based on overlapping patient data and limited functional studies. 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.
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.
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Last Evaluated:
07/31/2014
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence 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 (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
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.
Genomic View
Select assembly:
(NC_000014.8)
()