ClinGen Dosage Sensitivity Curation Page

14q32 region associated with UPD(14) phenotypes

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
20179077 Bena et al. (2010): A report of a patient with a de novo deletion of this region, of paternal origin, who had a UPD(14)mat phenotype. They determined that this deletion was mediated by flanking (TGG)n tandem repeats. The deletion encompasses multiple genes, both imprinted and non-imprinted. The authors also show that the patient previously reported by Buiting et al (2008), see below, had the identical deletion.
18454453 Buiting et al (2008): A report of a patient with a deletion mediated by the flanking (TGG)n tandem repeats as described by Bena (2010) who had a UPD(14)mat phenotype. The deletion was paternally derived based on methylation-sensitive PCR, although the father was not available for testing.

Evidence for Triplosenstive Phenotype

NOTE:The loss of function score should be used to evaluate deletions, and the triplosensitivity score should be used to evaluated duplications. CNVs encompassing more than one gene must be evaluated in their totality (e.g. overall size, gain vs. loss, presence of other genes, etc). The rating of a single gene within the CNV should not necessarily be the only criteria by which one defines a clinical interpretation. Individual interpretations must take into account the phenotype described for the patient as well as issues of penetrance and expressivity of the disorder. ACMG has published guidelines for the characterization of postnatal CNVs, and these recommendations should be utilized (Genet Med (2011)13: 680-685). Exceptions to these interpretive correlations will occur, and clinical judgment should always be exercised.