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Speech apraxia v2.0 CUX1 Gene migrated from ENSG00000257923 to ENSG00000257923 (gene set migration)
Speech apraxia v2.0 KCND3 Gene migrated from ENSG00000171385 to ENSG00000171385 (gene set migration)
Speech apraxia v2.0 CAMK2A Gene migrated from ENSG00000070808 to ENSG00000070808 (gene set migration)
Speech apraxia v2.0 NSD1 Gene migrated from ENSG00000165671 to ENSG00000165671 (gene set migration)
Speech apraxia v2.0 ADGRL1 Gene migrated from ENSG00000072071 to ENSG00000072071 (gene set migration)
Speech apraxia v2.0 FBXW7 Gene migrated from ENSG00000109670 to ENSG00000109670 (gene set migration)
Speech apraxia v2.0 ARHGEF9 Gene migrated from ENSG00000131089 to ENSG00000131089 (gene set migration)
Speech apraxia v2.0 GNB1 Gene migrated from ENSG00000078369 to ENSG00000078369 (gene set migration)
Speech apraxia v2.0 ZBTB18 Gene migrated from ENSG00000179456 to ENSG00000179456 (gene set migration)
Speech apraxia v2.0 TAOK2 Gene migrated from ENSG00000149930 to ENSG00000149930 (gene set migration)
Speech apraxia v2.0 TRIP12 Gene migrated from ENSG00000153827 to ENSG00000153827 (gene set migration)
Speech apraxia v2.0 SPAST Gene migrated from ENSG00000021574 to ENSG00000021574 (gene set migration)
Speech apraxia v2.0 SETD1B Gene migrated from ENSG00000139718 to ENSG00000139718 (gene set migration)
Speech apraxia v2.0 PURA Gene migrated from ENSG00000185129 to ENSG00000185129 (gene set migration)
Speech apraxia v2.0 UPF2 Gene migrated from ENSG00000151461 to ENSG00000151461 (gene set migration)
Speech apraxia v2.0 POGZ Gene migrated from ENSG00000143442 to ENSG00000143442 (gene set migration)
Speech apraxia v2.0 ZFHX4 Gene migrated from ENSG00000091656 to ENSG00000091656 (gene set migration)
Speech apraxia v2.0 ANK2 Gene migrated from ENSG00000145362 to ENSG00000145362 (gene set migration)
Speech apraxia v2.0 BPTF Gene migrated from ENSG00000171634 to ENSG00000171634 (gene set migration)
Speech apraxia v2.0 HNRNPK Gene migrated from ENSG00000165119 to ENSG00000165119 (gene set migration)
Speech apraxia v2.0 PHF21A Gene migrated from ENSG00000135365 to ENSG00000135365 (gene set migration)
Speech apraxia v2.0 MRTFB Gene symbol changed from MKL2 to MRTFB during gene set migration (ENSG00000186260 -> ENSG00000186260)
Speech apraxia v2.0 SHANK3 Gene migrated from ENSG00000251322 to ENSG00000251322 (gene set migration)
Speech apraxia v2.0 RBFOX3 Gene migrated from ENSG00000167281 to ENSG00000167281 (gene set migration)
Speech apraxia v2.0 ERF Gene migrated from ENSG00000105722 to ENSG00000105722 (gene set migration)
Speech apraxia v2.0 ZNF142 Gene migrated from ENSG00000115568 to ENSG00000115568 (gene set migration)
Speech apraxia v2.0 MEIS2 Gene migrated from ENSG00000134138 to ENSG00000134138 (gene set migration)
Speech apraxia v2.0 GNAO1 Gene migrated from ENSG00000087258 to ENSG00000087258 (gene set migration)
Speech apraxia v2.0 DIP2C Gene migrated from ENSG00000151240 to ENSG00000151240 (gene set migration)
Speech apraxia v2.0 WDR5 Gene migrated from ENSG00000196363 to ENSG00000196363 (gene set migration)
Speech apraxia v2.0 TNRC6B Gene migrated from ENSG00000100354 to ENSG00000100354 (gene set migration)
Speech apraxia v2.0 EBF3 Gene migrated from ENSG00000108001 to ENSG00000108001 (gene set migration)
Speech apraxia v2.0 CACNA1A Gene migrated from ENSG00000141837 to ENSG00000141837 (gene set migration)
Speech apraxia v2.0 DDX3X Gene migrated from ENSG00000215301 to ENSG00000215301 (gene set migration)
Speech apraxia v2.0 CDK13 Gene migrated from ENSG00000065883 to ENSG00000065883 (gene set migration)
Speech apraxia v2.0 BRPF1 Gene migrated from ENSG00000156983 to ENSG00000156983 (gene set migration)
Speech apraxia v2.0 KAT6A Gene migrated from ENSG00000083168 to ENSG00000083168 (gene set migration)
Speech apraxia v2.0 CHD3 Gene migrated from ENSG00000170004 to ENSG00000170004 (gene set migration)
Speech apraxia v2.0 SETD1A Gene migrated from ENSG00000099381 to ENSG00000099381 (gene set migration)
Speech apraxia v2.0 CAMTA1 Gene migrated from ENSG00000171735 to ENSG00000171735 (gene set migration)
Speech apraxia v2.0 KDM5C Gene migrated from ENSG00000126012 to ENSG00000126012 (gene set migration)
Speech apraxia v2.0 SCN8A Gene migrated from ENSG00000196876 to ENSG00000196876 (gene set migration)
Speech apraxia v2.0 PPP2R5D Gene migrated from ENSG00000112640 to ENSG00000112640 (gene set migration)
Speech apraxia v2.0 FOXP1 Gene migrated from ENSG00000114861 to ENSG00000114861 (gene set migration)
Speech apraxia v2.0 SET Gene migrated from ENSG00000119335 to ENSG00000119335 (gene set migration)
Speech apraxia v2.0 GNAI1 Gene migrated from ENSG00000127955 to ENSG00000127955 (gene set migration)
Speech apraxia v2.0 SETD5 Gene migrated from ENSG00000168137 to ENSG00000168137 (gene set migration)
Speech apraxia v2.0 SETBP1 Gene migrated from ENSG00000152217 to ENSG00000152217 (gene set migration)
Speech apraxia v2.0 EHMT1 Gene migrated from ENSG00000181090 to ENSG00000181090 (gene set migration)
Speech apraxia v2.0 SLC6A1 Gene migrated from ENSG00000157103 to ENSG00000157103 (gene set migration)
Speech apraxia v2.0 FOXP2 Gene migrated from ENSG00000128573 to ENSG00000128573 (gene set migration)
Speech apraxia v2.0 SMARCA2 Gene migrated from ENSG00000080503 to ENSG00000080503 (gene set migration)
Speech apraxia v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.40
Speech apraxia v1.40 NSD1 Hali Van Niel gene: NSD1 was added
gene: NSD1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD1 were set to 41530369; 16001444
Phenotypes for gene: NSD1 were set to Sotos syndrome (MIM#117550)
Review for gene: NSD1 was set to RED
Added comment: Reported individual with CAS and de novo in frame deletion (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline.

While speech delay or impairment is prevalent in Sotos syndrome, Ball et al. (2005; PMID: 16001444) found errors appear to be language-related rather than motoric and therefore this is not enough to promote evidence.
Sources: Expert List, Literature
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.983 T > G; 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
Speech apraxia v1.40 FBXW7 Hali Van Niel gene: FBXW7 was added
gene: FBXW7 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW7 were set to 41530369; 35395208
Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language (MIM#620012)
Review for gene: FBXW7 was set to RED
Added comment: Reported individual with CAS and frameshift variant (c.1919delG; p.(Ser640Thrfs*7)) (Van Niel et al., 2026; PMID: 41530369) leading to truncated protein. Validated diagnostic finding from VCGS clinical NATA pipeline

FBXW7 variants associated with variable neurodevelopmental condition, including impaired speech (PMID: 35395208)
Sources: Expert List, Literature
Speech apraxia v1.40 CUX1 Hali Van Niel gene: CUX1 was added
gene: CUX1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUX1 were set to 41530369; PMID: 37644171
Phenotypes for gene: CUX1 were set to Neurodevelopmental disorder with developmental delay and with or without motor or speech delay (MIM#618330)
Review for gene: CUX1 was set to RED
Added comment: Reported individual with CAS and de novo CUX1 intragenic deletion (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline.

Oppermann et al. (2023; PMID: 37644171) decribe 31 and 24 out of 32 individuals with CUX1 variants presented with speech and motor delay, respectively.
Sources: Expert List, Literature
Speech apraxia v1.40 CAMK2A Hali Van Niel gene: CAMK2A was added
gene: CAMK2A was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2A were set to 41530369; 28130356; 29784083; 29560374
Phenotypes for gene: CAMK2A were set to Intellectual disability 53 (MIM#617798).
Mode of pathogenicity for gene: CAMK2A was set to Other
Review for gene: CAMK2A was set to RED
Added comment: Reported individual with CAS and dysarthria and de novo CAMK2A variant (c.635C>T; p.(Pro212Leu)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline

Dominant negative, loss of function and gain of function are known mechanisms of disease in
this gene and are associated with CAMK2A -related intellectual disability (PMID: 28130356, 29784083, 29560374)
Sources: Expert List, Literature
Speech apraxia v1.40 ADGRL1 Hali Van Niel gene: ADGRL1 was added
gene: ADGRL1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRL1 were set to 41530369; 35907405
Phenotypes for gene: ADGRL1 were set to developmental delay, behavioural abnormalities, and neuropsychiatric disorders (MIM#620065).
Review for gene: ADGRL1 was set to RED
Added comment: Reported individual with CAS and maternal LoF variant (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic C4 finding from VCGS clinical NATA pipeline.

Vitobello et al. (2022; PMID: 35907405) report 9 unrelated individuals with ADGRL1 variants, 9/9 with unspecified speech delay.
Sources: Expert List, Literature
Speech apraxia v1.36 SET Zornitza Stark Marked gene: SET as ready
Speech apraxia v1.36 SET Zornitza Stark Gene: set has been classified as Green List (High Evidence).
Speech apraxia v1.36 SET Zornitza Stark Classified gene: SET as Green List (high evidence)
Speech apraxia v1.36 SET Zornitza Stark Gene: set has been classified as Green List (High Evidence).
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 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
Speech apraxia v1.31 SLC6A1 Hali Van Niel gene: SLC6A1 was added
gene: SLC6A1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A1 were set to 41530369; 39931922
Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy (MIM#616421
Review for gene: SLC6A1 was set to GREEN
Added comment: Reported individual with CAS and de novo missense variant (c.1097_1098delinsCT; p.(Leu366Pro)) (Van Niel et al., 2026; PMID: 41530369), Validated diagnostic finding from VCGS clinical NATA pipeline.

Mitchel et al. (2025; PMID: 39931922) report two individuals with dysarthria and SLC6A1 variant (Supp Table 6).
Sources: Expert List, Literature
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
Speech apraxia v1.31 SET Hali Van Niel gene: SET was added
gene: SET was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SET were set to 41530369; 39931922
Phenotypes for gene: SET were set to Intellectual developmental disorder, 58 (MIM#618106).
Review for gene: SET was set to GREEN
Added comment: Reported individual with CAS and de novo nonsense variant (c.103_104del; p.(Ile35*)) (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 CAS and SET variant (Supp Table 6).
Sources: Expert List, Literature
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
Speech apraxia v1.31 SCN8A Hali Van Niel gene: SCN8A was added
gene: SCN8A was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN8A were set to 41530369; 39931922
Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia (MIM#614306)
Review for gene: SCN8A was set to GREEN
Added comment: One reported individual with CAS and de novo missense variant, c.417 G > A; p.(Met139Ile) (Van Niel et al., 2026; PMID: 41530369). Validated diagnostic finding from VCGS clinical NATA pipeline

Mitchel et al. (2025; PMID: 39931922) report two individuals with CAS and SCN8A variants (Supp Table 6).
Sources: Expert List, Literature
Speech apraxia v1.31 KDM5C Hali Van Niel reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 41530369, 39931922; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM#300534); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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 v1.31 KDM5C Hali Van Niel reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: None; Publications: (PMID: 41530369, 39931922); Phenotypes: intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM#300534); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Speech apraxia v1.31 GNAI1 Hali Van Niel gene: GNAI1 was added
gene: GNAI1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAI1 were set to PMID: 41530369; 39931922; 33473207
Phenotypes for gene: GNAI1 were set to neurodevelopmental disorder with hypotonia, impaired speech, and behavioural abnormalities (MIM#619854)
Review for gene: GNAI1 was set to AMBER
Added comment: One reported individual with CAS and de novo missense variant (c.518 A > T; p.(Asp173Val)) (Van Niel et al., 2026; PMID: 41530369)

Mitchel et al. (2025; PMID: 39931922) report one individual with dysarthria and GNAI1 variant (Supp Table 6).

Disorder characterised by impaired speech. Phenotype has variable expressivity ranging from mild to severe (PMID: 33473207)
Sources: Expert List, Literature
Speech apraxia v1.29 EHMT1 Hali Van Niel gene: EHMT1 was added
gene: EHMT1 was added to Speech apraxia. Sources: Expert List
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EHMT1 were set to PMID: 41530369; PMID: 38290825
Phenotypes for gene: EHMT1 were set to Kleefstra syndrome 1 (MIM#610253)
Review for gene: EHMT1 was set to GREEN
Added comment: Two reported individuals with CAS and EHMT1 variants (c.3229 C > T; p.(Gln1077*); c.2842 C > T; p.(Arg948Trp)) (Van Niel et al., 2026; PMID: 41530369)

Morrison et al. (2024; PMID: 38290825) reported 49 individuals with EHMT1 variants assessed by a speech pathologist, 34/49 with dysarthria and 29/49 with CAS.
Sources: Expert List
Speech apraxia v1.29 CAMTA1 Hali Van Niel gene: CAMTA1 was added
gene: CAMTA1 was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMTA1 were set to PMID: 41530369; PMID: 39931922; PMID: 33131045
Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioural abnormalities (MIM#614756)
Review for gene: CAMTA1 was set to GREEN
Added comment: One reported individual with CAS and dysarthria with a denovo frameshift variant (c.2072_2075del; p.(Thr691Argfs*35)) (Van Niel et al., 2026; PMID: 41530369)

Mitchel et al. (2025; PMID: 39931922) report 3 individuals with CAMTA1 variants with dysarthria

Jacobs et al. (2020; PMID: 33131045) report 9 individuals with CAMTA1 variants, 5/9 with dysarthria and 9/9 with unspecified speech delay
Sources: Expert List, Literature
Speech apraxia v1.28 CACNA1A Hali Van Niel gene: CACNA1A was added
gene: CACNA1A was added to Speech apraxia. Sources: Expert List,Literature
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to (PMID: 41530369); (PMID: 39931922)
Phenotypes for gene: CACNA1A were set to CACNA1A-related complex neurodevelopmental disorder (MONDO:0100254)
Review for gene: CACNA1A was set to GREEN
Added comment: Three reported individuals with CAS in LoF nonsense variants (c.3829 C > T; p.(Arg1277*), paternal); c.492 C > G; p.(Tyr164*), maternal; c.592 C > T; p.(Arg198*), maternal) (Van Niel et al., 2026; PMID: 41530369)

Mitchel et al. (2025; PMID: 39931922) report 11 individuals with CACNA1A variants (4 with CAS and 8 with dysarthria)
Sources: Expert List, Literature
Speech apraxia v1.21 Zornitza Stark removed gene:SETD5 from the panel
Speech apraxia v1.20 Zornitza Stark removed gene:SETD2 from the panel
Speech apraxia v1.19 Zornitza Stark removed gene:SET from the panel
Speech apraxia v1.6 SET Thomas Scerri Deleted their 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
Speech apraxia v1.6 TRIM8 Thomas Scerri gene: TRIM8 was added
gene: TRIM8 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRIM8 were set to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428
Review for gene: TRIM8 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 TAB2 Thomas Scerri gene: TAB2 was added
gene: TAB2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart defects, nonsyndromic, 2, MIM# 614980
Review for gene: TAB2 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 SPTBN1 Thomas Scerri gene: SPTBN1 was added
gene: SPTBN1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTBN1 were set to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619475
Review for gene: SPTBN1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert 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
Speech apraxia v1.6 SLC6A1 Thomas Scerri gene: SLC6A1 was added
gene: SLC6A1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy, MIM# 616421
Review for gene: SLC6A1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert 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
Speech apraxia v1.6 SETD2 Thomas Scerri gene: SETD2 was added
gene: SETD2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SETD2 were set to Intellectual developmental disorder, autosomal dominant 70, MIM# 620157; Luscan-Lumish syndrome, MIM# 616831; Rabin-Pappas syndrome, MIM# 620155
Review for gene: SETD2 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 SET Thomas Scerri gene: SET was added
gene: SET was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SET were set to Intellectual developmental disorder, autosomal dominant 58, MIM# 618106
Review for gene: SET was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 SCN8A Thomas Scerri gene: SCN8A was added
gene: SCN8A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Developmental and epileptic encephalopathy 13, MIM# 614558; Seizures, benign familial infantile, 5, MIM# 617080
Review for gene: SCN8A was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 RAF1 Thomas Scerri gene: RAF1 was added
gene: RAF1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAF1 were set to Cardiomyopathy, dilated, 1NN, MIM# 615916; LEOPARD syndrome 2, MIM# 611554; Noonan syndrome 5, MIM# 611553
Review for gene: RAF1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert 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
Speech apraxia v1.6 NSD1 Thomas Scerri gene: NSD1 was added
gene: NSD1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome, MIM# 117550
Review for gene: NSD1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert 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
Speech apraxia v1.6 GNAI1 Thomas Scerri gene: GNAI1 was added
gene: GNAI1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GNAI1 were set to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM# 619854
Review for gene: GNAI1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 FBXW7 Thomas Scerri gene: FBXW7 was added
gene: FBXW7 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBXW7 were set to Developmental delay, hypotonia, and impaired language, MIM# 620012
Review for gene: FBXW7 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 EHMT1 Thomas Scerri gene: EHMT1 was added
gene: EHMT1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EHMT1 were set to Kleefstra syndrome 1, MIM# 610253
Review for gene: EHMT1 was set to RED
Added comment: Two in-house (as yet unpublished) CAS probands with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 CAMTA1 Thomas Scerri gene: CAMTA1 was added
gene: CAMTA1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAMTA1 were set to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM# 614756
Review for gene: CAMTA1 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 CAMK2A Thomas Scerri gene: CAMK2A was added
gene: CAMK2A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAMK2A were set to Intellectual developmental disorder, autosomal dominant 53, MIM# 617798
Review for gene: CAMK2A was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert list, Expert Review
Speech apraxia v1.6 CACNA1A Thomas Scerri gene: CACNA1A was added
gene: CACNA1A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 38712155
Phenotypes for gene: CACNA1A were set to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, MIM# 141500; Spinocerebellar ataxia 6, MIM# 183086
Review for gene: CACNA1A was set to GREEN
Added comment: Three in-house (as yet unpublished) CAS probands with pathogenic variants.

Magielski et al. (2024; PMID: 38712155) report 1 individual with speech apraxia and a CACNA1C genetic diagnosis.
Sources: Expert list, Expert Review
Speech apraxia v1.3 BPTF Thomas Scerri gene: BPTF was added
gene: BPTF was added to Speech apraxia. Sources: Expert Review,Expert list
Mode of inheritance for gene: BPTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BPTF were set to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM# 617755
Review for gene: BPTF was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert Review, Expert list
Speech apraxia v1.3 ANK2 Thomas Scerri gene: ANK2 was added
gene: ANK2 was added to Speech apraxia. Sources: Expert Review
Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANK2 were set to 37195288
Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-relatedNeurodevelopmental disorder (MONDO:0700092), gene-related
Review for gene: ANK2 was set to RED
Added comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant.
Sources: Expert Review
Speech apraxia v1.3 SETBP1 Thomas Scerri commented on gene: SETBP1: Two in-house (as yet unpublished) CAS probands with pathogenic variants.
Speech apraxia v1.1 SETD1A Zornitza Stark Classified gene: SETD1A as Green List (high evidence)
Speech apraxia v1.1 SETD1A Zornitza Stark Gene: setd1a has been classified as Green List (High Evidence).
Speech apraxia v1.0 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: GREEN; Changed publications: 29463886, 32346159, 36117209
Speech apraxia v1.0 SETD1A Thomas Scerri changed review comment from: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Kaspi et al. (2022; PMID: 36117209) report a CAS proband with a de novo SETD1A splice acceptor variant.

An independent (unpublished) in-house CAS proband has a de novo SETD1A frameshift variant.

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Speech apraxia v0.38 SETD1A Thomas Scerri changed review comment from: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)

Fifteen further independent probands with loss-of-function SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Speech apraxia v0.38 SETD1B Thomas Scerri changed review comment from: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1B missense variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.38 SETBP1 Thomas Scerri changed review comment from: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.".
Sources: Expert list, Expert Review; to: First reported CAS case with a SETBP1 frameshift variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with loss-of-function SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%; 25/31) being the most common diagnosis.".
Sources: Expert list, Expert Review
Speech apraxia v0.33 SETD1B Zornitza Stark Marked gene: SETD1B as ready
Speech apraxia v0.33 SETD1B Zornitza Stark Gene: setd1b has been classified as Red List (Low Evidence).
Speech apraxia v0.33 SETD1B Zornitza Stark Classified gene: SETD1B as Red List (low evidence)
Speech apraxia v0.33 SETD1B Zornitza Stark Gene: setd1b has been classified as Red List (Low Evidence).
Speech apraxia v0.31 ZBTB18 Thomas Scerri gene: ZBTB18 was added
gene: ZBTB18 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB18 were set to 36117209
Phenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM# 612337
Review for gene: ZBTB18 was set to RED
Added comment: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 TRIP12 Thomas Scerri gene: TRIP12 was added
gene: TRIP12 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIP12 were set to 36117209
Phenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM# 617752
Review for gene: TRIP12 was set to RED
Added comment: First reported CAS case with a de novo exon duplication of TRIP12 (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 TAOK2 Thomas Scerri gene: TAOK2 was added
gene: TAOK2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK2 were set to 36117209
Phenotypes for gene: TAOK2 were set to Neurodevelopmental disorder (MONDO:0700092), TAOK2-related
Review for gene: TAOK2 was set to RED
Added comment: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 SPAST Thomas Scerri gene: SPAST was added
gene: SPAST was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPAST were set to 36117209
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601
Review for gene: SPAST was set to RED
Added comment: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 SHANK3 Thomas Scerri gene: SHANK3 was added
gene: SHANK3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SHANK3 were set to 36117209; 33293697
Phenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232
Review for gene: SHANK3 was set to GREEN
Added comment: First reported CAS case with an de novo frameshift SHANK3 variant (Kaspi et al., 2022; PMID: 36117209).

Brignell et al. (2021; PMID: 33293697) report 2 cases of CAS in a cohort of individuals with Phelan-McDermid/22q13 deletion syndrome, caused by heterozygous loss of function of SHANK3.
Sources: Expert list, Expert Review
Speech apraxia v0.31 SETD1B Thomas Scerri gene: SETD1B was added
gene: SETD1B was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1B were set to 36117209
Phenotypes for gene: SETD1B were set to Intellectual developmental disorder with seizures and language delay, MIM# 619000
Review for gene: SETD1B was set to RED
Added comment: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.31 RBFOX3 Thomas Scerri gene: RBFOX3 was added
gene: RBFOX3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX3 were set to 36117209; 24039908
Phenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related
Review for gene: RBFOX3 was set to AMBER
Added comment: First reported CAS case with a paternally inherited nonsense RBFOX3 variant (Kaspi et al., 2022; PMID: 36117209). The carrier father was also affected.

Lal et al. (2013; PMID: 24039908) report two cases with nonsense RBFOX3 variants, both with initial speech or language delay, and one of which with "Moderate developmetal delay, delayed speech development, mild oral dyspraxia".
Sources: Expert list, Expert Review
Speech apraxia v0.27 PURA Thomas Scerri gene: PURA was added
gene: PURA was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PURA were set to 36117209
Phenotypes for gene: PURA were set to Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties, MIM# 616158
Added comment: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209). Both proband and parent affected.
Sources: Expert list, Expert Review
Speech apraxia v0.27 PHF21A Thomas Scerri gene: PHF21A was added
gene: PHF21A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF21A were set to 36117209
Phenotypes for gene: PHF21A were set to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725
Review for gene: PHF21A was set to RED
Added comment: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.27 KDM5C Thomas Scerri gene: KDM5C was added
gene: KDM5C was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 36117209; 36434256
Phenotypes for gene: KDM5C were set to Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, MIM# 300534
Review for gene: KDM5C was set to RED
Added comment: First reported CAS case with a de novo frameshift HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).

Leonardi et al. (2023; PMID: 36434256) report 30 individuals with HNRNPK variants, of which 16 have reported speech delay (including all males with records, and several females). No mention of apraxia or dyspraxia though.

Note: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes.
Sources: Expert list, Expert Review
Speech apraxia v0.27 HNRNPK Thomas Scerri gene: HNRNPK was added
gene: HNRNPK was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: HNRNPK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPK were set to 36117209
Phenotypes for gene: HNRNPK were set to Au-Kline syndrome, MIM# 616580
Review for gene: HNRNPK was set to RED
Added comment: First reported CAS case with a de novo nonsense HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.21 SETD1A Zornitza Stark Marked gene: SETD1A as ready
Speech apraxia v0.21 SETD1A Zornitza Stark Gene: setd1a has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.21 SETD1A Zornitza Stark Classified gene: SETD1A as Amber List (moderate evidence)
Speech apraxia v0.21 SETD1A Zornitza Stark Gene: setd1a has been classified as Amber List (Moderate Evidence).
Speech apraxia v0.20 SETBP1 Zornitza Stark Marked gene: SETBP1 as ready
Speech apraxia v0.20 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Speech apraxia v0.20 SETBP1 Zornitza Stark Classified gene: SETBP1 as Green List (high evidence)
Speech apraxia v0.20 SETBP1 Zornitza Stark Gene: setbp1 has been classified as Green List (High Evidence).
Speech apraxia v0.10 ARHGEF9 Zornitza Stark Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Speech apraxia v0.8 ERF Thomas Scerri gene: ERF was added
gene: ERF was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERF were set to 36117209; 35761471; 35852485
Phenotypes for gene: ERF were set to Craniosynostosis 4, MIM# 600775
Review for gene: ERF was set to AMBER
Added comment: First two reported CAS cases with a nonsense ERF variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.

Care et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.

Moddemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments.
Sources: Expert list, Expert Review
Speech apraxia v0.8 DIP2C Thomas Scerri gene: DIP2C was added
gene: DIP2C was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DIP2C were set to 36117209; 38421105
Phenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO:0700092), DIP2C-related
Review for gene: DIP2C was set to AMBER
Added comment: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209).

Ha et al. (2024; PMID: 38421105) report 23 cases with various DIP2C variants, including the one published by Kaspi et al. (2022; PMID: 36117209). All 23 cases have various speech deficits and two (including the Kaspi et al. (2022) case) are reported having speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 BRPF1 Thomas Scerri gene: BRPF1 was added
gene: BRPF1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRPF1 were set to 36117209; 27939640; 38346666
Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
Review for gene: BRPF1 was set to GREEN
Added comment: First reported CAS proband with a de novo missense BRPF1 variant (Kaspi et al., 2022; PMID: 36117209).

Yan et al. (2017; PMID: 27939640) reported 10 independent cases with de novo or inherited BRPF1 variants and with a range of speech and language deficits, including one proband with speech apraxia (proband 4, Table S1).

Morison et al. (2024; PMID: 38346666) report 15 new cases with mostly de novo BRPF1 variants and a range of speech deficits, including 3 specifically with speech apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 ARHGEF9 Thomas Scerri gene: ARHGEF9 was added
gene: ARHGEF9 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ARHGEF9 were set to 36117209
Phenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM# 300607
Review for gene: ARHGEF9 was set to RED
Added comment: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209).
Sources: Expert list, Expert Review
Speech apraxia v0.8 ZNF142 Thomas Scerri gene: ZNF142 was added
gene: ZNF142 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF142 were set to 32345733; 31036918; 34531528; 35616059
Phenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425
Review for gene: ZNF142 was set to AMBER
Added comment: A reported CAS proband with compound heterozygous missenses ZNF142 variants (Hildebrand et al., 2020; PMID: 32345733).

Khan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous LoF or missense ZNF142 variants for which the cases have a range of speech deficits including speech apraxia in one case.

Kameyama et al. (2020, PMID: 34531528) report two brothers with biallelic LoF ZNF142 variants for which the cases have speech deficits.

Christensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.
Sources: Expert list, Expert Review
Speech apraxia v0.8 UPF2 Thomas Scerri gene: UPF2 was added
gene: UPF2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: UPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UPF2 were set to 32345733; 31585809
Phenotypes for gene: UPF2 were set to Neurodevelopmental disorder (MONDO:0700092), UPF2-related
Review for gene: UPF2 was set to RED
Added comment: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733).

Johnson et al. (2019; PMID: 31585809) report 3 independent cases with LoF UPF2 variants and a range of speech deficits, including speech apraxia in one of the cases (although the speech disorder had resolved to a mild phonological disorder at later testing).
Sources: Expert list, Expert Review
Speech apraxia v0.8 POGZ Thomas Scerri gene: POGZ was added
gene: POGZ was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POGZ were set to 32345733; 35052493
Phenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364
Review for gene: POGZ was set to RED
Added comment: Only reported CAS proband with a de novo missense POGZ variant (Hildebrand et al., 2020; PMID: 32345733).

Nagy et al. (2022; PMID: 35052493) reported 117 cases from a meta-analysis and found that "the most common symptoms were speech delay in 88%". This is not strong enough evidence to be supporting evidence for speech apraxia per se.
Sources: Expert list, Expert Review
Speech apraxia v0.8 MEIS2 Thomas Scerri gene: MEIS2 was added
gene: MEIS2 was added to Speech apraxia. Sources: Expert Review,Expert list
Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MEIS2 were set to 32345733; 30055086
Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987
Review for gene: MEIS2 was set to AMBER
Added comment: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733).

Douglas et al. (2018; PMID: 30055086) report 3 new cases with de novo missense variants and 2 previously published deletion and nonsense variants. All cases have a range of differently worded speech problems, and one has verbal apraxia.
Sources: Expert Review, Expert list
Speech apraxia v0.8 GNB1 Thomas Scerri gene: GNB1 was added
gene: GNB1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB1 were set to 32345733
Phenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973
Review for gene: GNB1 was set to RED
Added comment: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733).
Sources: Expert list, Expert Review
Speech apraxia v0.8 GNAO1 Thomas Scerri gene: GNAO1 was added
gene: GNAO1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNAO1 were set to 32345733; 35722775; 38881224
Phenotypes for gene: GNAO1 were set to Developmental and epileptic encephalopathy 17, MIM# 615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493
Review for gene: GNAO1 was set to AMBER
Added comment: First reported CAS proband with a de novo missense GNAO1 variant (Hildebrand et al., 2020; PMID: 32345733).

These additional cases are less clear for speech apraxia:

Wirth et al. (2020; PMID: 35722775) reported twenty-four independent cases with a range of de novo and inherited variants, including missense and nonsense, for which a speech disorder (dysarthria) was reported for 19 individuals.

Lasa-Aranzasti et al. (2024; PMID: 38881224) report eighteen independent cases and find "all patients developed some type of nonverbal communication, but only four acquired verbal language."
Sources: Expert list, Expert Review
Speech apraxia v0.8 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: AMBER
Speech apraxia v0.8 SETD1A Thomas Scerri edited their review of gene: SETD1A: Changed rating: RED
Speech apraxia v0.8 SETD1A Thomas Scerri changed review comment from: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)".
Sources: Expert list, Expert Review; to: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)". However, only one proband was explicitly recorded with speech apraxia (proband 14; supplementary Table 1).

Sources: Expert list, Expert Review
Speech apraxia v0.8 EBF3 Thomas Scerri gene: EBF3 was added
gene: EBF3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EBF3 were set to 32345733; 28017372
Phenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Review for gene: EBF3 was set to GREEN
Added comment: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Chao et al., (2017; PMID: 28017372) report three independent cases with de novo missense variants (all three curiously substituting the same amino acid). All three cases have "expressive speech disorder (3/3)" and a range of dysarthria and apraxia.
Sources: Expert list, Expert Review
Speech apraxia v0.8 DDX3X Thomas Scerri gene: DDX3X was added
gene: DDX3X was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: DDX3X were set to 32345733; 36117209; 37904618
Phenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958
Review for gene: DDX3X was set to GREEN
Added comment: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Second proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209)

Parra et al. (2024; PMID: 37904618) report thirty-four independent probands with DDX3X mutations for which "the most frequent clinical features (>70%) identified in these patients included speech dyspraxia (88.2%)".
Sources: Expert list, Expert Review
Speech apraxia v0.8 CDK13 Thomas Scerri gene: CDK13 was added
gene: CDK13 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDK13 were set to 32345733; 36599938
Phenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360
Review for gene: CDK13 was set to GREEN
Added comment: First proband with a de novo missense CDK13 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).

Morison et al. (2023; PMID: 36599938) report 41 cases (with 33 novel variants) and find "most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22)."
Sources: Expert list, Expert Review
Speech apraxia v0.8 ZFHX4 Thomas Scerri gene: ZFHX4 was added
gene: ZFHX4 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to 29463886; 34461323
Phenotypes for gene: ZFHX4 were set to Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related
Review for gene: ZFHX4 was set to RED
Added comment: First proband with splice acceptor ZFHX4 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fontana et al. (2021; PMID: 34461323) report a similar splice region variant in ZFHX4 for a proband with a neuropsychological phenotype, and summarise other probands with deletions or point mutations and associated phenotypes. Only one of these has a recorded speech phenotype. Overall this paper doesn't add strong evidence for a link between speech apraxia and ZFHX4.
Sources: Expert list, Expert Review
Speech apraxia v0.8 WDR5 Thomas Scerri gene: WDR5 was added
gene: WDR5 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to 29463886; 36408368
Phenotypes for gene: WDR5 were set to Neurodevelopmental disorder (MONDO:0700092), WDR5-related
Review for gene: WDR5 was set to GREEN
Added comment: First proband with a de novo missense WDR5 variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Blok et al. (2022; PMID: 36408368) studied "11 unrelated individuals with six different rare de novo germline missense variants in WDR5; one identical variant was found in five individuals and another variant in two individuals. All individuals had neurodevelopmental disorders including speech/language delays (n = 11). Speech delays were reported in all individuals, including nasal speech, developmental language disorders, verbal dyspraxia, and persistent stuttering."
Sources: Expert list, Expert Review
Speech apraxia v0.8 TNRC6B Thomas Scerri gene: TNRC6B was added
gene: TNRC6B was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNRC6B were set to 29463886; 32152250; 38300321; 38404251
Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, MIM# 619243
Review for gene: TNRC6B was set to GREEN
Added comment: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Granadillo et al., (2020; PMID: 32152250) studied seventeen further probands with LoF TNRC6B variants and found "speech delay in 94% (16/17), fine motor delay in 82% (14/17) and gross motor delay in 71% (12/17)".

Yahia et al., (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a LoF variant in TNRC6B.

Yang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.
Sources: Expert list, Expert Review
Speech apraxia v0.8 SETD1A Thomas Scerri gene: SETD1A was added
gene: SETD1A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETD1A were set to 29463886; 32346159
Phenotypes for gene: SETD1A were set to Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056
Review for gene: SETD1A was set to GREEN
Added comment: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).

Fifteen further independent probands with LoF SETD1A variants were investigated (Kummeling et al., 2021; PMID: 32346159) and "global DD was reported in 14/15 individuals, including delayed speech and language development (14/14) and motor development (13/14)".
Sources: Expert list, Expert Review
Speech apraxia v0.8 SETBP1 Thomas Scerri gene: SETBP1 was added
gene: SETBP1 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SETBP1 were set to 29463886; 33907317
Phenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM# 616078
Review for gene: SETBP1 was set to GREEN
Added comment: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886)

Thirty one further probands with LoF SETBP1 variants studied (Morgan et al., 2019; PMID: 33907317) revealing that "Protracted and aberrant speech development was consistently seen, regardless of motor or intellectual ability. We expand the linguistic phenotype associated with SETBP1 LoF syndrome (SETBP1 haploinsufficiency disorder), revealing a striking speech presentation that implicates both motor (CAS, dysarthria) and language (phonological errors) systems, with CAS (80%) being the most common diagnosis.".
Sources: Expert list, Expert Review
Speech apraxia v0.0 MKL2 Thomas Scerri gene: MKL2 was added
gene: MKL2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MKL2 were set to 29463886; 37013900; 38366112
Phenotypes for gene: MKL2 were set to Childhood apraxia of speech; see comments.
Penetrance for gene: MKL2 were set to Complete
Added comment: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).

Additional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024).
Sources: Expert list, Expert Review
Speech apraxia v0.0 KAT6A Thomas Scerri gene: KAT6A was added
gene: KAT6A was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT6A were set to 35892268; 38366112; 30245513
Phenotypes for gene: KAT6A were set to Childhood apraxia of speech; see comments.
Penetrance for gene: KAT6A were set to Complete
Review for gene: KAT6A was set to GREEN
Added comment: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al. (2024).
Sources: Expert list, Expert Review
Speech apraxia v0.0 CHD3 Thomas Scerri gene: CHD3 was added
gene: CHD3 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHD3 were set to PMID: 30397230; 38366112; 35346573
Penetrance for gene: CHD3 were set to Complete
Review for gene: CHD3 was set to GREEN
Added comment: Variant p.Leu915Phe yielded increased activity (PMID: 30397230).
Evidence of reduced penetrance and variable expressivity (PMID: 35346573).
Sources: Expert list, Expert Review
Speech apraxia v0.0 FOXP2 Thomas Scerri gene: FOXP2 was added
gene: FOXP2 was added to Speech apraxia. Sources: Expert list,Expert Review
Mode of inheritance for gene: FOXP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP2 were set to PMID: 11586359; 36328423; 38366112
Phenotypes for gene: FOXP2 were set to Childhood apraxia of speech
Penetrance for gene: FOXP2 were set to Complete
Review for gene: FOXP2 was set to GREEN
Added comment: Sources: Expert list, Expert Review