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| Intellectual disability - microarray and sequencing v2.978 | DCPS |
Catherine Snow Source Expert Review Green was added to DCPS. Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS Publications for gene DCPS were changed from 25712129; 25701870; 30289615 to 25701870; 30289615; 25712129 Rating Changed from No List (delete) to Green List (high evidence) |
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| Intellectual disability - microarray and sequencing v2.530 | DCPS |
Konstantinos Varvagiannis gene: DCPS was added gene: DCPS was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: DCPS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCPS were set to 25712129; 25701870; 30289615 Phenotypes for gene: DCPS were set to Al-Raqad syndrome (OMIM 616459) Penetrance for gene: DCPS were set to Complete Review for gene: DCPS was set to GREEN gene: DCPS was marked as current diagnostic Added comment: Biallelic pathogenic DCPS variants cause Al-Raqad syndrome (OMIM 616459). 7 patients from 3 families have been reported to date, all summarized in PMID 30289615 (first reports on the disorder - PMIDs : 25712129, 25701870). Most individuals belong to consanguineous families although a compound heterozygous patient belonging to a broader consanguineous family (in PMID 25701870) and a further individual was born to unrelated parents originating from the same region (in PMID 30289615) have been described. Overall, 2 splice site and 2 missense variants have been reported. Functional studies were carried out and support pathogenicity of the variants in the first 2 studies. Developmental delay and intellectual disability are universal features. DCPS is included in gene panels for intellectual disability offered by different diagnostic labs. As a result this gene can be considered for inclusion in this panel as green. Sources: Expert Review, Literature |
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