| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Speech apraxia v1.37 | FOXP1 | Zornitza Stark Marked gene: FOXP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.37 | FOXP1 | Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.37 | FOXP1 | Zornitza Stark Classified gene: FOXP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.37 | FOXP1 | Zornitza Stark Gene: foxp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | FOXP1 |
Hali Van Niel changed review comment from: Individual with CAS reported with de novo nonsense variant, c.1426 C > T; p.(Gln476*) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Speech impairment hallmark in disorder. Braden et al. (2021; PMID: 34109629) report 16 individuals with FOXP1 variants assessed by speech pathologist, 16/16 with dysarthric features and 14/16 with speech apraxia features. Mitchel et al. (2025; PMID: 39931922) report three individuals with FOXP1 variants (1 with CAS, 2 with dysarthria) Sources: Expert List, Literature; to: Individual with CAS reported with nonsense variant, c.1426 C > T; p.(Gln476*) (Van Niel et al., 2026; PMID: 41530369). Speech impairment hallmark in disorder. Braden et al. (2021; PMID: 34109629) report 16 individuals with FOXP1 variants assessed by speech pathologist, 16/16 with dysarthric features and 14/16 with speech apraxia features. Mitchel et al. (2025; PMID: 39931922) report three individuals with FOXP1 variants (1 with CAS, 2 with dysarthria) Sources: Expert List, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | FOXP1 |
Hali Van Niel changed review comment from: Individual with CAS reported with de novo nonsense variant, c.1426 C > T; p.(Gln476*) (Van Niel et al., 2026; PMID: 41530369) Speech impairment hallmark in disorder. Braden et al. (2021; PMID: 34109629) report 16 individuals with FOXP1 variants assessed by speech pathologist, 16/16 with dysarthric features and 14/16 with speech apraxia features. Mitchel et al. (2025; PMID: 39931922) report three individuals with FOXP1 variants (1 with CAS, 2 with dysarthria) Sources: Expert List, Literature; to: Individual with CAS reported with de novo nonsense variant, c.1426 C > T; p.(Gln476*) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline Speech impairment hallmark in disorder. Braden et al. (2021; PMID: 34109629) report 16 individuals with FOXP1 variants assessed by speech pathologist, 16/16 with dysarthric features and 14/16 with speech apraxia features. Mitchel et al. (2025; PMID: 39931922) report three individuals with FOXP1 variants (1 with CAS, 2 with dysarthria) Sources: Expert List, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.31 | FOXP1 |
Hali Van Niel gene: FOXP1 was added gene: FOXP1 was added to Speech apraxia. Sources: Expert List,Literature Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to (PMID: 41530369; 34109629; 39931922) Phenotypes for gene: FOXP1 were set to intellectual disability-severe speech delay-mild dysmorphism syndrome (MONDO: 0013352) Review for gene: FOXP1 was set to GREEN Added comment: Individual with CAS reported with de novo nonsense variant, c.1426 C > T; p.(Gln476*) (Van Niel et al., 2026; PMID: 41530369) Speech impairment hallmark in disorder. Braden et al. (2021; PMID: 34109629) report 16 individuals with FOXP1 variants assessed by speech pathologist, 16/16 with dysarthric features and 14/16 with speech apraxia features. Mitchel et al. (2025; PMID: 39931922) report three individuals with FOXP1 variants (1 with CAS, 2 with dysarthria) Sources: Expert List, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.12 | Zornitza Stark removed gene:FOXP1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | FOXP1 | Thomas Scerri Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | FOXP1 |
Thomas Scerri changed review comment from: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS. Another in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar. Braden et al., (2021; 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that "All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16)." Sources: Expert list, Expert Review; to: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS. Another in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar. Braden et al., (2021; PMID: 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that "All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16)." Sources: Expert list, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Speech apraxia v1.6 | FOXP1 |
Thomas Scerri gene: FOXP1 was added gene: FOXP1 was added to Speech apraxia. Sources: Expert list,Expert Review Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXP1 were set to 34109629 Phenotypes for gene: FOXP1 were set to Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670 Review for gene: FOXP1 was set to GREEN Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS. Another in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar. Braden et al., (2021; 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that "All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16)." Sources: Expert list, Expert Review |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||