ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
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- Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel.Journal of neuromuscular diseases · 2025Article
- Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.Psychiatry and clinical neurosciences · 2025Article
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.Annual review of biomedical data science · 2024Review
- Review
- Clinical variants paired with phenotype: A rich resource for brain gene curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.Orphanet journal of rare diseases · 2024Article
- Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations.Journal of human genetics · 2023Article
- Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.Genetics in medicine open · 2023Article
- Expanding the mutational and clinical spectrum of Chinese intellectual disability patients with two novelFrontiers in pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
41 authors at 20 institutions in 10 countries.
Funding
Abstract
purposeNeurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical Genome Resource Intellectual Disability/Autism Gene Curation Expert Panel (GCEP) uses systematic curation to distinguish ID/ASD genes that are appropriate for clinical testing (ie, with substantial evidence supporting their relationship to disease) from those that are not.
methodsUsing the Clinical Genome Resource gene-disease validity curation framework, the ID/Autism GCEP classified genes frequently included on clinical ID/ASD testing panels as Definitive, Strong, Moderate, Limited, Disputed, Refuted, or No Known Disease Relationship.
resultsAs of September 2021, 156 gene-disease pairs have been evaluated. Although most (75%) were determined to have definitive roles in NDDs, 22 (14%) genes evaluated had either Limited or Disputed evidence. Such genes are currently not recommended for use in clinical testing owing to the limited ability to assess the effect of identified variants.
conclusionOur understanding of gene-disease relationships evolves over time; new relationships are discovered and previously-held conclusions may be questioned. Without periodic re-examination, inaccurate gene-disease claims may be perpetuated. The ID/Autism GCEP will continue to evaluate these claims to improve diagnosis and clinical care for NDDs.
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