 |
3 copies: 15q telomere |
- 0
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37480
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
review of nstd45 regions
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Last Evaluated:
11/26/2013
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
Please note: Most cases in the literature describing 15q telomeric deletions actually encompass a larger area, often involving 15q26.2, than the area being evaluated here. This genomic region contains five coding genes (TM2D3, TARSL2, OR4F6, OR4F15, OR4F4) and several non-coding genes. Davidsson et al 2008 (PMID 18194513) proposed a possible role for TM2D3 haploinsufficiency in patients with larger15q26 microdeletions, although this was based solely on information about the proposed function of TM2D3 (regulatory roles in cell death or proliferation signal cascades). At this time, there has been no evidence supporting the association of a specific phenotype to the haploinsufficiency of this particular region of 15q26.3.
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
There are no reports in the literature associating duplications of this genomic region with any phenotype; however, there are several entries of duplications involving part of this genomic region in the public CNV databases of (presumably) 'normal' controls.
Genomic View
Select assembly:
(NC_000015.9)
()
