 |
6q24 region (includes PLAGL1) |
- 1
Haplo
Score - 3
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37442
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
Paternally-derived duplications of this region have been shown to result in TNDM
Haploinsufficiency:
Little Evidence for Haploinsufficiency
(1)
Triplosensitivity:
Sufficient Evidence for Triplosensitivity
(3)
Last Evaluated:
05/24/2016
Haploinsufficiency (HI) Score Details
HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence:
-
PUBMED:
PMID:16971482
Diatloff-Zito et al. (2007) reported an ~365-kb heterozygous deletion in one patient with TNDM and severe congenital anomalies. No information was provided regarding inheritance status.
Triplosensitivity (TS) Score Details
TS Score:
3
TS Evidence Strength:
Sufficient Evidence for Triplosensitivity (Disclaimer)
TS Disease:
- diabetes mellitus, transient neonatal, 1 Monarch
TS Published Evidence:
-
PUBMED: PMID:10615957
Cave et al. (2000) found paternal 6q24 duplications in 6 of 13 cases of TNDM.
-
PUBMED: PMID:8842729
Temple et al. (1996) reported that paternal transmission of a visible duplication of chromosome 6q24 leads to TNDM.
-
PUBMED: PMID:10923638
Temple et al. (2000) described 11 cases of TNDM in which qPCR identified paternally-derived submicroscopic duplications of 6q24
TS Evidence Comments:
Docherty et al. (2010) described 15 transient neonatal diabetes patients with overlapping duplications of the 6q24 region. These cases were used to define a minimal critical region, and the coordinates described in that manuscript are the coordinates used to define this region for the ClinGen Dosage Sensitivity map. See also GeneReviews: http://www.ncbi.nlm.nih.gov/books/NBK1534/.
