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| Speech apraxia v2.0 | CUX1 | Gene migrated from ENSG00000257923 to ENSG00000257923 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | CUX1 |
Hali Van Niel gene: CUX1 was added gene: CUX1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CUX1 were set to 41530369; PMID: 37644171 Phenotypes for gene: CUX1 were set to Neurodevelopmental disorder with developmental delay and with or without motor or speech delay (MIM#618330) Review for gene: CUX1 was set to RED Added comment: Reported individual with CAS and de novo CUX1 intragenic deletion (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline. Oppermann et al. (2023; PMID: 37644171) decribe 31 and 24 out of 32 individuals with CUX1 variants presented with speech and motor delay, respectively. Sources: Expert List, Literature |
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