14q11.2 region including CHD8 and SUPT16H

Region Name

Cytoband

14q11.2

Genomic Coordinates

GRCh37/hg19	chr14:21826900-21861987 NCBI Ensembl UCSC
GRCh38/hg38	chr14:21358741-21393828 NCBI Ensembl UCSC

Dosage ID:

ISCA-37438

Curation Status:

Complete

Issue Type:

Dosage Curation - Region

Haploinsufficiency:

Emerging Evidence for Haploinsufficiency (2)

Triplosensitivity:

No Evidence for Triplosensitivity (0)

HI Score:

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.

TS Score:

TS Evidence Strength:

No Evidence for Triplosensitivity (Disclaimer)

Select assembly: ()