Potocki-Shaffer |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37407
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Region
Description:
DELETION INFO:
ISCA P Value: ND EICHLER P Value: 0.1199
OMIM: #601224
SEG DUP mediated: No
REFS: Reference 1: Wakui, et al., Europ J Hum Genet. 13:528-540, 2005; PMID: 15852040; Reference 2: Watkins, et al., Nature Genet. 11:434-437, 1995; PMID: 7493025; Reference 3: Hershberger, et al., GeneReviews. URL: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=dcm-ov accessed on 05/07/2009
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
GRCh37/hg19 chr11:43941853-46021136 (NC_000011.9)