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| Speech apraxia v2.0 | KCND3 | Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.40 | KCND3 |
Hali Van Niel gene: KCND3 was added gene: KCND3 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCND3 were set to 41530369; 32823520; 23280838; 34361012 Phenotypes for gene: KCND3 were set to Spinocerebellar ataxia 19 (MIM#607346) Review for gene: KCND3 was set to GREEN Added comment: Reported individual with CAS and de novo missense variant (c.983âTâ>âG; p.(Leu328Arg)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline. Spinocerebellar ataxia clinically characterised by dysarthria, and over 20 reported cases with dysarthria (motor speech disorder) (PMID: 32823520) Loss of function and gain of function are known mechanisms of disease in this gene. Missense variants have been reported to cause both a loss of function and gain of function effect (PMID: 23280838, PMID:34361012) Sources: Expert List, Literature |
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| Speech apraxia v1.14 | Zornitza Stark removed gene:KCND3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | KCND3 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | KCND3 |
Thomas Scerri gene: KCND3 was added gene: KCND3 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCND3 were set to Brugada syndrome 9, MIM# 616399; Spinocerebellar ataxia 19, MIM# 607346 Review for gene: KCND3 was set to RED Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.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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