14q11.2 region including CHD8 and SUPT16H |
- 2
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37438
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Haploinsufficiency:
Emerging Evidence for Haploinsufficiency
(2)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
05/09/2012
Haploinsufficiency (HI) Score Details
HI Score:
2
HI Evidence Strength:
Emerging Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
PMID:17545556
Zahir et al. describe three unrelated probands with developmental delays and similar dysmorphic features with de novo deletions involving 14q11.2. The minimal region of overlap was determined to be a region of appoximately 35 kb (genome coordinates listed above) encompassing two genes, CHD8 and SUPT16H.
HI Evidence Comments:
This region was only rated a "2" because all three individuals were reported in the same publication.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)