ClinGen Dosage Sensitivity Curation Page

6q24 region (includes PLAGL1)

  • Curation Status: Complete
  • id: ISCA-37442
  • Date last evaluated: 2016-05-24
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 1
  • ClinGen Triplosensitivity Score: 3


Location Information

Select assembly: () ()
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
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.
Evidence for gain of function phenotype
PubMed ID Description
10615957 Cave et al. (2000) found paternal 6q24 duplications in 6 of 13 cases of TNDM.
8842729 Temple et al. (1996) reported that paternal transmission of a visible duplication of chromosome 6q24 leads to TNDM.
10923638 Temple et al. (2000) described 11 cases of TNDM in which qPCR identified paternally-derived submicroscopic duplications of 6q24

Triplosensitivity phenotype comment:

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/.