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| Speech apraxia v2.0 | CAMTA1 | Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | CAMTA1 |
Hali Van Niel changed review comment from: One reported individual with CAS and dysarthria with a denovo frameshift variant (c.2072_2075del; p.(Thr691Argfs*35)) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 3 individuals with CAMTA1 variants with dysarthria Jacobs et al. (2020; PMID: 33131045) report 9 individuals with CAMTA1 variants, 5/9 with dysarthria and 9/9 with unspecified speech delay Sources: Expert List, Literature; to: One reported individual with CAS and dysarthria with a denovo frameshift variant (c.2072_2075del; p.(Thr691Argfs*35)) (Van Niel et al., 2026; PMID: 41530369) Validated diagnostic finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report 3 individuals with CAMTA1 variants with dysarthria Jacobs et al. (2020; PMID: 33131045) report 9 individuals with CAMTA1 variants, 5/9 with dysarthria and 9/9 with unspecified speech delay Sources: Expert List, Literature |
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| Speech apraxia v1.31 | CAMTA1 | Zornitza Stark Marked gene: CAMTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | CAMTA1 | Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | CAMTA1 | Zornitza Stark Classified gene: CAMTA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | CAMTA1 | Zornitza Stark Gene: camta1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.29 | CAMTA1 |
Hali Van Niel gene: CAMTA1 was added gene: CAMTA1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMTA1 were set to PMID: 41530369; PMID: 39931922; PMID: 33131045 Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioural abnormalities (MIM#614756) Review for gene: CAMTA1 was set to GREEN Added comment: One reported individual with CAS and dysarthria with a denovo frameshift variant (c.2072_2075del; p.(Thr691Argfs*35)) (Van Niel et al., 2026; PMID: 41530369) Mitchel et al. (2025; PMID: 39931922) report 3 individuals with CAMTA1 variants with dysarthria Jacobs et al. (2020; PMID: 33131045) report 9 individuals with CAMTA1 variants, 5/9 with dysarthria and 9/9 with unspecified speech delay Sources: Expert List, Literature |
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| Speech apraxia v1.9 | Zornitza Stark removed gene:CAMTA1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CAMTA1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | CAMTA1 |
Thomas Scerri gene: CAMTA1 was added gene: CAMTA1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM# 614756 Review for gene: CAMTA1 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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