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Last Posted: Apr 09, 2024
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Improvement of Variant Reclassification in Genetic Neurodevelopmental Conditions
M Kowanda et al, GIM Open, April 9, 2024

From the abstract: " Regular re-evaluation of neurodevelopmental genetic variants can be helpful as relevant variant re-classifications occur frequently and may impact clinical care. Simons Searchlight contributes to the international neurodevelopmental community by systematically reviewing uncertain variants annually and providing reclassified variants to participants, researchers, and ClinVar."

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
Lea Urpa et al. Eur J Hum Genet 2024 3

From the abstract: "Intellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants. To investigate the genetic factors influencing mild and severe ID, we evaluated rare and common variation in the Northern Finland Intellectual Disability cohort (n?=?1096 ID patients). Overall, we report evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability. "

Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort
KR Dias et al, Genetics in Medicine, January 19, 2024

From the abstract: " Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively. ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID. The ES diagnostic yield was 42/74 (57%). GS diagnoses were made in 9/32 (28%) ES-unresolved families."

Improving care for rare genetic neurodevelopmental disorders: a systematic review and critical appraisal of clinical practice guidelines using AGREE II.
Mirthe J Klein Haneveld et al. Genet Med 2024 1 101071

From the abstract: "70 internationally published guidelines, addressing the diagnosis and/or management of 28 conditions, were included. The methodological rigor of development was highly variable with limited reporting of literature searches and consensus methods. Comprehensive, high-quality guidelines are lacking for many rare genetic neurodevelopmental disorders. Use and transparent reporting of sound development methodologies, active involvement of affected individuals and families, robust conflict of interest procedures, and attention to implementation are vital for enhancing the impact of clinical practice recommendations."

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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