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| Intellectual disability v2.753 | CHD3 | Louise Daugherty Classified gene: CHD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.753 | CHD3 | Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.753 | CHD3 | Louise Daugherty Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.749 | CHD3 | Louise Daugherty Added comment: Comment on publications: added publication to support gene-disease association | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.749 | CHD3 | Louise Daugherty Publications for gene: CHD3 were set to 30397230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.746 | CHD3 | Louise Daugherty Added comment: Comment on phenotypes: added MIMid from OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.746 | CHD3 | Louise Daugherty Phenotypes for gene: CHD3 were changed from Global developmental delay; Intellectual disability; Macrocephaly to Global developmental delay; Intellectual disability; Macrocephaly; Snijders Blok-Campeau syndrome, 618205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.530 | CHD3 |
Konstantinos Varvagiannis gene: CHD3 was added gene: CHD3 was added to Intellectual disability. Sources: Expert Review,Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CHD3 were set to 30397230 Phenotypes for gene: CHD3 were set to Global developmental delay; Intellectual disability; Macrocephaly Penetrance for gene: CHD3 were set to unknown Review for gene: CHD3 was set to GREEN Added comment: PMID 30397230 is a collaborative study reporting on the phenotype of 35 individuals including 4 subjects from the DDD study, (most) with de novo mutations in CHD3. Common features include developmental delay, variable degrees of intellectual disability, impaired speech and language (all 3 were universal features) as well as macrocephaly (in approximately 60%) or vision problems. Widely spaced eyes and high/broad/prominent forehead were among the most constant facial features (noted in around 80% each). The majority of the variants reported are missense and cluster within the helicase domain although exceptions of missense variants in other domains or loss-of-function variants are provided. A few variants were recurrent and/or concerned the same residue. Two pairs of affected siblings are reported, in one case this was explained by maternal mosaicism for the mutation. Perturbed ATPase and/or chromatin remodeling activity relative to wild-type were demonstrated although both gain and loss of these activities were noted depending on the variant tested. CHD3 is intolerant to both loss-of-function and missense variants (pLI of 1.0 and Z-score of +7.15). As a result this gene can be considered for inclusion in the ID panel as green. Sources: Expert Review, Literature |
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