11/30/2023 0 Comments Kgb archiver gui(2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. If no pathogenic variant is found, gene-targeted deletion/duplication analysis could be considered (see Table 1 for information on deletion/duplication analysis).Ī multigene intellectual disability panel that includes ANKRD11 and other genes of interest (see Differential Diagnosis) may also be considered. Sequence analysis of ANKRD11 is performed first. Persons with the distinctive features described in Suggestive Findings are likely to be diagnosed using gene-targeted testing (see Option 1), whereas those in whom a specific diagnosis has been elusive are more likely to be diagnosed using genomic testing (see Option 2). Gene-targeted testing requires the clinician to determine which gene(s) are likely involved, whereas genomic testing may not. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and " likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. However, some individuals with clinical findings highly suggestive of KBG syndrome do not have a detectable pathogenic ANKRD11 variant or 16q24.3 deletion. The diagnosis of KBG syndrome is established in a proband by detection of either a heterozygous pathogenic (or likely pathogenic) variant in ANKRD11 or deletion of 16q24.3 that includes ANKRD11 (see Table 1). For example, involvement of a cardiologist and maternal fetal medicine physician for a pregnant woman with a history of a congenital heart defect control of seizures during pregnancy for those with a seizure disorder. Pregnancy management: Pregnancy management should be tailored to the specific features in the affected woman. Surveillance: Routine monitoring of hearing, vision, growth, pubertal status (in prepubertal individuals), and cognitive development.Īgents/circumstances to avoid: Ototoxic drugs should be avoided because of the risk for hearing loss. Treatment of manifestations: Surgical corrections and/or speech therapy for palatal anomalies nasogastric tube feeding in infants pharmacologic treatment for gastroesophageal reflux disease pressure-equalizing tubes and/or tonsillectomy/adenoidectomy for chronic otitis media consideration of amplification for hearing loss consideration of growth hormone therapy for short stature and medication to arrest puberty for premature pubertal development standard treatment of seizure disorder, undescended testis in males, congenital heart defects, strabismus / refractive errors, and developmental disabilities.
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