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| Speech apraxia v1.32 | SMARCA2 | Zornitza Stark Marked gene: SMARCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.32 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.32 | SMARCA2 | Zornitza Stark Classified gene: SMARCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.32 | SMARCA2 | Zornitza Stark Gene: smarca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | SMARCA2 |
Hali Van Niel gene: SMARCA2 was added gene: SMARCA2 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA2 were set to 41530369; 39931922; 32694869 Phenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome (MIM#601358); Blepharophimosis-impaired intellectual development syndrome (MIM#619293) Review for gene: SMARCA2 was set to GREEN Added comment: Two reported individual with CAS and de novo missense variants (c.2870 A > G; p.(Gln957Arg); c.3484 C > T; p.(Arg1162Cys)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic findings from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with CAS and SMARCA2 variant (Supp Table 6). Phenotype dependent on variant position along gene (PMID: 32694869). Both phenotypes implicated with CAS. Sources: Expert List, Literature |
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| Speech apraxia v1.23 | Zornitza Stark removed gene:SMARCA2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SMARCA2 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | SMARCA2 |
Thomas Scerri gene: SMARCA2 was added gene: SMARCA2 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMARCA2 were set to Blepharophimosis-impaired intellectual development syndrome, MIM# 619293; Nicolaides-Baraitser syndrome, MIM# 601358 Review for gene: SMARCA2 was set to RED Added comment: Two in-house (as yet unpublished) CAS probands with pathogenic variants. Sources: Expert list, Expert Review |
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