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| Speech apraxia v2.0 | FBXW7 | Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | FBXW7 |
Hali Van Niel gene: FBXW7 was added gene: FBXW7 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBXW7 were set to 41530369; 35395208 Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language (MIM#620012) Review for gene: FBXW7 was set to RED Added comment: Reported individual with CAS and frameshift variant (c.1919delG; p.(Ser640Thrfs*7)) (Van Niel et al., 2026; PMID: 41530369) leading to truncated protein. Validated diagnostic finding from VCGS clinical NATA pipeline FBXW7 variants associated with variable neurodevelopmental condition, including impaired speech (PMID: 35395208) Sources: Expert List, Literature |
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| Speech apraxia v1.11 | Zornitza Stark removed gene:FBXW7 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | FBXW7 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | FBXW7 |
Thomas Scerri gene: FBXW7 was added gene: FBXW7 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language, MIM# 620012 Review for gene: FBXW7 was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. Sources: Expert list, Expert Review |
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