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| Speech apraxia v2.0 | ADGRL1 | Gene migrated from ENSG00000072071 to ENSG00000072071 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | ADGRL1 |
Hali Van Niel gene: ADGRL1 was added gene: ADGRL1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADGRL1 were set to 41530369; 35907405 Phenotypes for gene: ADGRL1 were set to developmental delay, behavioural abnormalities, and neuropsychiatric disorders (MIM#620065). Review for gene: ADGRL1 was set to RED Added comment: Reported individual with CAS and maternal LoF variant (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic C4 finding from VCGS clinical NATA pipeline. Vitobello et al. (2022; PMID: 35907405) report 9 unrelated individuals with ADGRL1 variants, 9/9 with unspecified speech delay. Sources: Expert List, Literature |
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