ClinGen Dosage Sensitivity Curation Page

13q12.12 recurrent region (includes SACS and SGCG)

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
30767844 Kendall et al. (2019) analyzed the effect of the 13q12.12 deletion on cognitive performance and general measures of functioning of 84 deletion carrier adults recruited from the UK Biobank cohort (a large, genotyped population) compared to non-carrier controls from the same population. Significant differences were observed for 2 of 11 total measurements (average effect size: -0.16), including 1 of 7 cognitive measures and 1 of 4 measures of general functioning. Penetrance for any clinical phenotype associated with this deletion was estimated to be 4% using a previously reported clinical cohort compared to the UK Biobank control database.

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.