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| Speech apraxia v2.0 | CACNA1A | Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | CACNA1A |
Hali Van Niel changed review comment from: Three reported individuals with CAS and LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria) Sources: Expert List, Literature; to: Three reported individuals with CAS and LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic findings from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria) Sources: Expert List, Literature |
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| Speech apraxia v1.29 | CACNA1A |
Hali Van Niel changed review comment from: Three reported individuals with CAS in LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria) Sources: Expert List, Literature; to: Three reported individuals with CAS and LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria) Sources: Expert List, Literature |
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| Speech apraxia v1.29 | CACNA1A | Zornitza Stark Marked gene: CACNA1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.29 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.29 | CACNA1A | Zornitza Stark Classified gene: CACNA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.29 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.28 | CACNA1A |
Hali Van Niel gene: CACNA1A was added gene: CACNA1A was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to (PMID: 41530369); (PMID: 39931922) Phenotypes for gene: CACNA1A were set to CACNA1A-related complex neurodevelopmental disorder (MONDO:0100254) Review for gene: CACNA1A was set to GREEN Added comment: Three reported individuals with CAS in LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria) Sources: Expert List, Literature |
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| Speech apraxia v1.7 | Zornitza Stark removed gene:CACNA1A from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CACNA1A | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CACNA1A |
Thomas Scerri gene: CACNA1A was added gene: CACNA1A was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1A were set to 38712155 Phenotypes for gene: CACNA1A were set to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, MIM# 141500; Spinocerebellar ataxia 6, MIM# 183086 Review for gene: CACNA1A was set to GREEN Added comment: Three in-house (as yet unpublished) CAS probands with pathogenic variants. Magielski et al. (2024; PMID: 38712155) report 1 individual with speech apraxia and a CACNA1C genetic diagnosis. Sources: Expert list, Expert Review |
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