| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Speech apraxia v1.38 | PPP2R5D | Zornitza Stark Marked gene: PPP2R5D as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.38 | PPP2R5D | Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.38 | PPP2R5D | Zornitza Stark Classified gene: PPP2R5D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.38 | PPP2R5D | Zornitza Stark Gene: ppp2r5d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | PPP2R5D |
Hali Van Niel changed review comment from: Individual with CAS reported with de novo nonsense variant, c.751 G > T; p.(Asp251Tyr) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with PPP2R5D variant with CAS (Supp Table 6). Almost all individuals with a PPP2R5D variant have speech impairment, hallmark of disorder (PMID: 32074998) Sources: Expert List, Literature; to: Individual with CAS reported with de novo missense variant, c.751 G > T; p.(Asp251Tyr) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with PPP2R5D variant with CAS (Supp Table 6). Almost all individuals with a PPP2R5D variant have speech impairment, hallmark of disorder (PMID: 32074998) Sources: Expert List, Literature |
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| Speech apraxia v1.31 | PPP2R5D |
Hali Van Niel gene: PPP2R5D was added gene: PPP2R5D was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPP2R5D were set to 41530369; 39931922; 32074998 Phenotypes for gene: PPP2R5D were set to Intellectual developmental disorder 35 (MIM#616355) Review for gene: PPP2R5D was set to GREEN Added comment: Individual with CAS reported with de novo nonsense variant, c.751 G > T; p.(Asp251Tyr) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Mitchel et al. (2025; PMID: 39931922) report one individual with PPP2R5D variant with CAS (Supp Table 6). Almost all individuals with a PPP2R5D variant have speech impairment, hallmark of disorder (PMID: 32074998) Sources: Expert List, Literature |
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| Speech apraxia v1.16 | Zornitza Stark removed gene:PPP2R5D from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | PPP2R5D | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | PPP2R5D |
Thomas Scerri gene: PPP2R5D was added gene: PPP2R5D was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1, MIM# 616355 Review for gene: PPP2R5D 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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