| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Speech apraxia v1.33 | SLC6A1 | Zornitza Stark Marked gene: SLC6A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.33 | SLC6A1 | Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.33 | SLC6A1 | Zornitza Stark Classified gene: SLC6A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.33 | SLC6A1 | Zornitza Stark Gene: slc6a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | SLC6A1 |
Hali Van Niel gene: SLC6A1 was added gene: SLC6A1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC6A1 were set to 41530369; 39931922 Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy (MIM#616421 Review for gene: SLC6A1 was set to GREEN Added comment: Reported individual with CAS and de novo missense variant (c.1097_1098delinsCT; p.(Leu366Pro)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline. Mitchel et al. (2025; PMID: 39931922) report two individuals with dysarthria and SLC6A1 variant (Supp Table 6). Sources: Expert List, Literature |
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| Speech apraxia v1.22 | Zornitza Stark removed gene:SLC6A1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SLC6A1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SLC6A1 |
Thomas Scerri gene: SLC6A1 was added gene: SLC6A1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy, MIM# 616421 Review for gene: SLC6A1 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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