ClinGen Dosage Sensitivity Curation Page

CSMD1

Curation Status: Complete

Gene Information

Location Information

Evidence for Loss Phenotypes

Evidence for loss of function phenotype
PubMed ID Description
23375656 Girirajan et al. (2013) performed microarray analysis on a cohort of patients with autism spectrum disorders (simplex and multiplex) and controls. Intragenic losses in CSMD1 were observed in three individuals (13503.p1, 11225.p1, 12775.p1). Inheritance was not assessed as part of this study. Please note that subject 11225.p1 was also included in Levy et al.
21658582 Levy et al. (2011) performed microarray analysis on a cohort of patients with autism spectrum disorder (simplex and multiplex). Subject 11225.p1, who has a diagnosis of autism spectrum disorder, was observed to have a heterozygous loss in CSMD1 as a result of a de novo mutational event. Please note that subject 11225.p1 was also included in Girirajan et al.
22083728 Kirov et al. (2012) used microarray analysis to study a cohort of patients with schizophrenia. A 177kb intragenic deletion removing an exon of CSMD1 was observed in a male patient with a diagnosis of paranoid schizophrenia. This copy number loss was the result of a de novo mutational event.

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.