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| Mendeliome v1.3028 | COMMD9 | Krithika Murali Marked gene: COMMD9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3028 | COMMD9 | Krithika Murali Gene: commd9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3028 | COMMD9 |
Krithika Murali gene: COMMD9 was added gene: COMMD9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: COMMD9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COMMD9 were set to PMID: 40601774 Phenotypes for gene: COMMD9 were set to Neurodevelopmental disorder, MONDO:0700092, COMMD9-related Review for gene: COMMD9 was set to RED Added comment: PMID: 40601774 report a cohort ascertained through GeneMatcher with phenotypic features overlapping with Ritscher-Schinzel syndrome. Homozygous fs variant in COMMD9 [NM_014186.3:c.208_209del, p.Leu70Glyfs*5] identified in a 4 yo M with dev delay, dysmorphism, skeletal changes including brachydactyly and radioulnar dysostosis, hypotonia, MRI-B anomalies - dysgyria, dilated lateral ventricles, deep white matter periventricular demyelination, thin corpus callosum, cerebellar vermis hypoplasia and malrotation. Consanguineous parents confirmed to be heterozygous carriers. No information provided regarding segregation of these variants in unaffected siblings. Sources: Literature |
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