| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Speech apraxia v1.34 | SETD5 | Zornitza Stark Marked gene: SETD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.34 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.34 | SETD5 | Zornitza Stark Classified gene: SETD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.34 | SETD5 | Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | SETD5 |
Hali Van Niel gene: SETD5 was added gene: SETD5 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to 41530369; 39931922 Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, 23 (MIM#615761) Review for gene: SETD5 was set to GREEN Added comment: Reported individual with CAS and de novo splicing variant (c.2347-7 A > G) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report five individuals SETD5 variants (4 with CAS, 1 with dysarthria). Unspecified speech delay/impairment reported commonly in individuals with SETD5 variants (PMID: 29484850) Sources: Expert List, Literature |
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| Speech apraxia v1.21 | Zornitza Stark removed gene:SETD5 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SETD5 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SETD5 |
Thomas Scerri gene: SETD5 was added gene: SETD5 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23, MIM# 615761 Review for gene: SETD5 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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