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| Intellectual disability v2.981 | DONSON | Catherine Snow Tag watchlist tag was added to gene: DONSON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.978 | DONSON |
Catherine Snow Source Expert Review was added to DONSON. Source Expert Review Amber was added to DONSON. Added phenotypes Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230 for gene: DONSON Rating Changed from No List (delete) to Amber List (moderate evidence) |
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| Intellectual disability v2.587 | DONSON |
Konstantinos Varvagiannis gene: DONSON was added gene: DONSON was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DONSON were set to 28630177; 28191891 Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities (MIM 617604); Microcephaly-micromelia syndrome (MIM 251230) Penetrance for gene: DONSON were set to unknown Review for gene: DONSON was set to AMBER gene: DONSON was marked as current diagnostic Added comment: It seems that the phenotypes related to DONSON biallelic mutations (PMIDs: 28630177, 28191891) can be extremely variable with pre-/perinatally lethal cases to variable degrees of microcephaly (-2.4 to -10.7 SD), short stature (several individuals with height within the normal percentiles), limb anomalies (many without such anomalies, or at least significant). Similarly, DD and more specifically ID has been observed in some patients (when it happened to be the case it was most commonly mild). This is most evident in the supplementary information of PMID: 28191891, specifically the following table: https://media.nature.com/original/nature-assets/ng/journal/v49/n4/extref/ng.3790-S2.xlsx Clinical synopses for the DONSON-related phenotypes: https://www.omim.org/clinicalSynopsis/table?mimNumber=617604,251230 The gene is not associated with any phenotype in G2P. DONSON is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc). As a result, gene could be considered for inclusion in the ID panel probably as amber (or green) following further review and/or if the phenotype is though to be relevant. [Consider also inclusion in other relevant panels apart from microcephaly, eg. limb disorders etc.] Sources: Literature, Radboud University Medical Center, Nijmegen |
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