{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=428","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=426","results":[{"created":"2024-07-03T12:52:53.104378+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6049","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psmd11 has been classified as Green List (High Evidence).","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:52:25.132539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1859","user_name":"Ain Roesley","item_type":"entity","text":"gene: SERPINA11 was added\ngene: SERPINA11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINA11 were set to 38831697\nReview for gene: SERPINA11 was set to RED\ngene: SERPINA11 was marked as current diagnostic\nAdded comment: 1 family with 2 fetuses.\r\n\r\n1st fetus presented with isolated pericardial effusion and a TOP was opted.\r\npost mortem: \r\nmild subcutaneous edema with subtle facial dysmorphic features\r\nsmall gelatinous glistening cyst on the right pericardium. Bilateral pleural effusion and multiple similar cysts were noted on the lung surfaces\r\n\r\n2nd fetus also presented with pleural and pericardial effusion and a TOP was opted\r\npost mortem findings were similar to fetus#1\r\n\r\nhomozygous nonsense variant in SERPINA11 was found p.(Tyr224*)\r\n\r\nImmunofluorescence of lung sections from fetus#1 and a gestation-matched fetus as a control demonstrated undetectable levels of SERPINA11 in the bronchiolar epithelium \nSources: Literature","entity_name":"SERPINA11","entity_type":"gene"},{"created":"2024-07-03T12:51:43.881423+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6048","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSMD11 was added\ngene: PSMD11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMD11 were set to 38866022; 30733659\nPhenotypes for gene: PSMD11 were set to Neurodevelopmental disorder, MONDO:0700092, PSMD11-related\nReview for gene: PSMD11 was set to GREEN\nAdded comment: PMID: 38866022 - 10 unrelated children with early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity. Cognitive impairment is recapitulated in a drosophila model. Loss of function is the mechanism of disease\r\n\r\nPMID: 30733659 - 4 probands with ID and different 17q11.2 deletions spanning PSMD11 \nSources: Literature","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:48:55.686743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1858","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSMD11 as ready","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:48:55.676064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1858","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psmd11 has been classified as Green List (High Evidence).","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:48:37.149344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1858","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSMD11 as Green List (high evidence)","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:48:37.132953+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1858","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psmd11 has been classified as Green List (High Evidence).","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:48:16.017115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1857","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSMD11 was added\ngene: PSMD11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PSMD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMD11 were set to 38866022; 30733659\nPhenotypes for gene: PSMD11 were set to Neurodevelopmental disorder, MONDO:0700092, PSMD11-related\nReview for gene: PSMD11 was set to GREEN\nAdded comment: PMID: 38866022 - 10 unrelated children with early-onset syndromic intellectual disability and neurodevelopmental delay with recurrent obesity. Cognitive impairment is recapitulated in a drosophila model. Loss of function is the mechanism of disease\r\n\r\nPMID: 30733659 - 4 probands with ID and different 17q11.2 deletions spanning PSMD11 \nSources: Literature","entity_name":"PSMD11","entity_type":"gene"},{"created":"2024-07-03T12:38:27.716373+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.265","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: VPS50 as Green List (high evidence)","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:38:27.694689+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.265","user_name":"Ain Roesley","item_type":"entity","text":"Gene: vps50 has been classified as Green List (High Evidence).","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:38:15.286528+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.240","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: VPS50 as Green List (high evidence)","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:38:15.273739+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.240","user_name":"Ain Roesley","item_type":"entity","text":"Gene: vps50 has been classified as Green List (High Evidence).","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:37:45.693392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1856","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: VPS50 as Green List (high evidence)","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:37:45.676244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1856","user_name":"Ain Roesley","item_type":"entity","text":"Gene: vps50 has been classified as Green List (High Evidence).","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:37:26.120304+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.264","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:37:08.971524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1855","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively.  The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nnystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively.  The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nmicrocephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:37:03.940397+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.239","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively.  The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nnystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive; to: 1x proband Chet for a nonsense p.(Lys5*) and a complex structural variant of a 4.3Mb inversion, flanked by 170kb and 428kb deletions, respectively.  The 428kb deletion spans the entire VPS50 gene.\r\n\r\nSanger confirmed the Lys5* to be 'homozygous' in the proband.\r\n\r\nPhenotypes include:\r\nmicrocephaly, nystagmus, seizures, hypoplastic corpus callous, neonatal low GGT cholesatsis, hepatomegaly, failure to thrive","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:36:32.355595+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.239","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:36:12.245548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1855","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: VPS50: Rating: GREEN; Mode of pathogenicity: None; Publications: 38876772; Phenotypes: Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis MIM#619685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"VPS50","entity_type":"gene"},{"created":"2024-07-03T12:23:08.015258+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6047","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PAK2 as ready","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:23:08.006011+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6047","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pak2 has been classified as Green List (High Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:23:01.504589+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6047","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PAK2 as Green List (high evidence)","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:23:01.487337+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6047","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pak2 has been classified as Green List (High Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:22:25.372408+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6046","user_name":"Ain Roesley","item_type":"entity","text":"gene: PAK2 was added\ngene: PAK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAK2 were set to 33693784; 38894571; 38712026\nPhenotypes for gene: PAK2 were set to Knobloch 2 syndrome MIM#618458\nReview for gene: PAK2 was set to GREEN\ngene: PAK2 was marked as current diagnostic\nAdded comment: total of 3 families including 2 siblings with intra-familial variability\r\n\r\nSiblings' phenotypes:\r\n Both had retinal detachment and interstitial parenchymal pulmonary changes on chest X-rays, but only one child had additional significant features such as cataract, posterior encephalocele, severe DD/ID with ASD, and epilepsy.\r\n\r\nOther 2 pro bands:\r\nGDD, delayed motor (but normal verbal) skills, hypotonia\r\n\r\nMissense variants with in vitro functional demonstrating reduction in PAK2 auto phosphorylation \nSources: Literature","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:19:58.141616+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.29","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PAK2 were set to 33693784","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:19:32.352243+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.29","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PAK2 as Amber List (moderate evidence)","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:19:32.338662+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.29","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pak2 has been classified as Amber List (Moderate Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:18:52.849806+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.28","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PAK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2 MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T12:14:23.175034+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.30","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: C10orf71 was added\ngene: C10orf71 was added to Dilated Cardiomyopathy. Sources: Other\nMode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: C10orf71 were set to 38950288\nPhenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021\nReview for gene: C10orf71 was set to GREEN\nAdded comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals. \r\nFurther identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.  \r\n\r\nc10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant. \nSources: Other","entity_name":"C10orf71","entity_type":"gene"},{"created":"2024-07-03T12:13:23.243560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1855","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: C10orf71 was added\ngene: C10orf71 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: C10orf71 were set to 38950288\nPhenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021\nReview for gene: C10orf71 was set to GREEN\nAdded comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals. \r\nFurther identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.  \r\n\r\nc10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant. \nSources: Other","entity_name":"C10orf71","entity_type":"gene"},{"created":"2024-07-03T11:59:56.330293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1855","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: PAK2 were set to 33693784","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T11:59:45.705996+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1854","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PAK2 as Green List (high evidence)","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T11:59:45.686522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1854","user_name":"Ain Roesley","item_type":"entity","text":"Gene: pak2 has been classified as Green List (High Evidence).","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T11:59:25.664831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1853","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38894571, 38712026; Phenotypes: Knobloch syndrome 2  MIM#618458; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PAK2","entity_type":"gene"},{"created":"2024-07-03T11:47:13.911245+10:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"1.1","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1\tMIM#309530","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2024-07-03T11:47:07.482905+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.7","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1, 309530 (3) to Intellectual developmental disorder, X-linked 1\tMIM#309530","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2024-07-03T11:32:59.926116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1853","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: USP25 was added\ngene: USP25 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: USP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP25 were set to 38875478\nPhenotypes for gene: USP25 were set to USP25-related epilepsy (epilepsy, idiopathic generalized, MONDO:0005579)\nMode of pathogenicity for gene: USP25 was set to Other\nReview for gene: USP25 was set to GREEN\nAdded comment: PMID: 38875478\r\n5 heterozygous variants were identified in 8 individuals from 5 unrelated families all with clinical phenotypes associated with generalised epilepsy.\r\n\r\nKnock-out mouse model showed increased seizure susceptibility compared to the WT. \r\nBoth loss of function and gain of function variants can be a mechanism of disease in individuals with USP25-related epilepsy. \nSources: Other","entity_name":"USP25","entity_type":"gene"},{"created":"2024-07-03T09:51:39.679457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1853","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489; distal hereditary motor neuropathy, MONDO:0018894 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489; Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854","entity_name":"RTN2","entity_type":"gene"},{"created":"2024-07-02T13:10:54.519204+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2024-07-01T21:51:18.592821+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: Additional phenotypes: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).; to: Lai et al. (2001; PMID: 11586359) reported a 3-generation family with speech apraxia carrying a missense FOXP2 variant and also an independent case with a translocation affecting FOXP2.\r\n\r\nMorison et al. (2023; PMID 36328423) \"phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years)\" and found \"speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%)\".","entity_name":"FOXP2","entity_type":"gene"},{"created":"2024-07-01T21:18:07.470380+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi 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.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi 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 speech/verbal apraxia or dyspraxia though.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \r\nSources: Expert list, Expert Review","entity_name":"KDM5C","entity_type":"gene"},{"created":"2024-07-01T21:14:59.356262+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with an de novo ZBTB18 nonsense variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2024-07-01T21:14:40.672144+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with an de novo TAOK2 missense variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"TAOK2","entity_type":"gene"},{"created":"2024-07-01T21:14:30.545077+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with an de novo SPAST missense variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"SPAST","entity_type":"gene"},{"created":"2024-07-01T21:14:16.359798+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209).  Both proband and parent affected. \r\nSources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209).  Both proband and parent affected. \r\n\r\nAlso several cases of \"absence of speech\" in the literature.\r\n\r\nSources: Expert list, Expert Review","entity_name":"PURA","entity_type":"gene"},{"created":"2024-07-01T21:13:56.980883+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an inherited missense PURA variant (Kaspi et al., 2022; PMID: 36117209).  Both proband and parent affected. \nSources: Expert list, Expert Review; to: First reported CAS case with an inherited PURA missense variant (Kaspi et al., 2022; PMID: 36117209).  Both proband and parent affected. \r\nSources: Expert list, Expert Review","entity_name":"PURA","entity_type":"gene"},{"created":"2024-07-01T21:13:34.815664+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo frameshift PHF21A variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo PHF21A frameshift variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"PHF21A","entity_type":"gene"},{"created":"2024-07-01T21:13:17.884646+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo frameshift HNRNPK variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi 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.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo HNRNPK frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nLeonardi 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.\r\n\r\nNote: Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type (MIM# 300534) is recorded as autosomal recessive, however female heterozygotes can have milder phenotypes. \r\nSources: Expert list, Expert Review","entity_name":"KDM5C","entity_type":"gene"},{"created":"2024-07-01T21:11:48.794460+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with an de novo frameshift SHANK3 variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nBrignell 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. \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo SHANK3 frameshift variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nBrignell 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. \r\nSources: Expert list, Expert Review","entity_name":"SHANK3","entity_type":"gene"},{"created":"2024-07-01T21:10:14.111046+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nSnijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.\r\n\r\nVan der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.; to: First reported CAS case with a de novo CHD3 missense variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nSnijders Blok et al. (2018; PMID: 30397230) examined 35 cases with CHD3 variants. The index case was diagnosed with severe speech apraxia.\r\n\r\nVan der Spek et al. (2022; PMID: 35346573) examined 21 families with CHD3 variants and found at least 2 independent cases with speech dyspraxia.","entity_name":"CHD3","entity_type":"gene"},{"created":"2024-07-01T21:07:48.349073+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: TNRC6B: Changed rating: RED","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2024-07-01T21:07:34.156928+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia et al. (2024; PMID: 38300321) looked at a Swedish cohort with severe developmental language disorder and find another case with a loss-of-function variant in TNRC6B.\r\n\r\nYang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying loss-of-function variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2024-07-01T21:06:38.589152+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: MKL2: Changed rating: RED","entity_name":"MKL2","entity_type":"gene"},{"created":"2024-07-01T21:05:21.394060+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: GNAO1: Changed rating: RED","entity_name":"GNAO1","entity_type":"gene"},{"created":"2024-07-01T21:04:56.009037+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: ERF: Changed rating: RED","entity_name":"ERF","entity_type":"gene"},{"created":"2024-07-01T21:00:15.436380+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: SHANK3: Changed rating: AMBER","entity_name":"SHANK3","entity_type":"gene"},{"created":"2024-07-01T20:47:14.929426+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: A reported CAS proband with compound heterozygous missenses ZNF142 variants (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nKhan 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.\r\n\r\nKameyama et al. (2020, PMID: 34531528) report two brothers with biallelic LoF ZNF142 variants for which the cases have speech deficits.\r\n\r\nChristensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits. \nSources: Expert list, Expert Review; to: First reported CAS proband with compound heterozygous ZNF142 missenses variants (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nKhan et al. (2019, PMID: 31036918) report 7 cases with compound heterozygous or else homozygous loss-of-function or missense ZNF142 variants for which the cases have a range of speech deficits, including speech apraxia in one case.\r\n\r\nKameyama et al. (2020, PMID: 34531528) report two brothers with biallelic loss-of-function ZNF142 variants for which the cases have speech deficits.\r\n\r\nChristensen et al. (2022; PMID: 35616059) report a further 26 individuals with biallelic ZNF142 variants for which the cases have a range of speech deficits.\r\n\r\nSources: Expert list, Expert Review","entity_name":"ZNF142","entity_type":"gene"},{"created":"2024-07-01T20:42:20.268319+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: A CAS proband with a de novo LoF UPF2 variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nJohnson 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). \nSources: Expert list, Expert Review; to: First reported CAS proband with a de novo UPF2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nJohnson et al. (2019; PMID: 31585809) report 3 independent cases with loss-of-function 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).\r\n\r\nSources: Expert list, Expert Review","entity_name":"UPF2","entity_type":"gene"},{"created":"2024-07-01T20:40:35.254779+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: Only reported CAS proband with a de novo missense POGZ variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nNagy 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. \nSources: Expert list, Expert Review; to: First reported CAS proband with a de novo POGZ missense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nNagy 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. \r\nSources: Expert list, Expert Review","entity_name":"POGZ","entity_type":"gene"},{"created":"2024-07-01T20:39:00.118308+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS proband with a LoF MEI2 variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nDouglas 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. \nSources: Expert Review, Expert list; to: First reported CAS proband with a MEI2 frameshift variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nDouglas 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. \r\nSources: Expert Review, Expert list","entity_name":"MEIS2","entity_type":"gene"},{"created":"2024-07-01T20:37:24.746093+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733). \nSources: Expert list, Expert Review; to: First reported CAS proband with a de novo GNB1 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nSources: Expert list, Expert Review","entity_name":"GNB1","entity_type":"gene"},{"created":"2024-07-01T20:29:35.552652+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS proband with a de novo missense GNAO1 variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nThese additional cases are less clear for speech apraxia:\r\n\r\nWirth 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.\r\n\r\nLasa-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.\" \nSources: Expert list, Expert Review; to: First reported CAS proband with a de novo GNAO1 missense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nThese additional cases are less clear for speech apraxia:\r\n\r\nWirth 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.\r\n\r\nLasa-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.\" \r\nSources: Expert list, Expert Review","entity_name":"GNAO1","entity_type":"gene"},{"created":"2024-07-01T20:28:31.741289+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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 one specifically had apraxia.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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 had \"expressive speech disorder (3/3)\" and one was reported with apraxia.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-07-01T20:28:03.620292+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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 one specifically has apraxia.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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 one specifically had apraxia.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-07-01T20:25:49.769006+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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 one specifically has apraxia.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-07-01T20:23:32.367824+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: EBF3: Changed publications: 32345733, 28017372, 35340043","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-07-01T20:23:25.737743+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with a de novo nonsense EBF3 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Of these ten cases carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo EBF3 nonsense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nChao 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.\r\n\r\nDeisseroth et al. (2022; PMID: 35340043) report a total of 83 individuals with missense or protein-truncating variants for EBF3 from a meta-analysis and find 10% have speech apraxia. Specifically, of these ten cases, carried de novo EBF3 variants and were reported as having speech apraxia (supplementary tables).\r\n\r\nSources: Expert list, Expert Review","entity_name":"EBF3","entity_type":"gene"},{"created":"2024-07-01T20:07:16.948809+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS proband with a de novo LoF DDX3X variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nSecond reported CAS proband with a de novo LoF DDX3X variant (Kaspi et al., 2022; PMID: 36117209)\r\n\r\nThird in-house CAS proband with a de novo LoF DDX3X variant (not published).\r\n\r\nParra 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%)\". \r\nSources: Expert list, Expert Review; to: Hildebrand et al. (2020; PMID: 32345733) report the first CAS case has a de novo DDX3X frameshift variant.\r\n\r\nKaspi et al. (2022; PMID: 36117209) report a case with dysarthria and a de novo DDX3X nonsense variant.\r\n\r\nAn independent (unpublished) in-house CAS proband has a de novo DDX3X nonsense variant.\r\n\r\nParra 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%; 30/34)\". \r\nSources: Expert list, Expert Review","entity_name":"DDX3X","entity_type":"gene"},{"created":"2024-07-01T19:43:55.959039+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with a de novo missense CDK13 variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nMorison 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).\" \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo CDK13 missense variant (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nMorison 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).\" \r\nSources: Expert list, Expert Review","entity_name":"CDK13","entity_type":"gene"},{"created":"2024-07-01T19:03:04.650622+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.\r\n\r\nCare et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.\r\n\r\nModdemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments. \r\nSources: Expert list, Expert Review; to: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.\r\n\r\nCare et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.\r\n\r\nModdemann et al. (2022; PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments. \r\nSources: Expert list, Expert Review","entity_name":"ERF","entity_type":"gene"},{"created":"2024-07-01T19:02:13.185407+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First two reported CAS cases with a nonsense ERF variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.\r\n\r\nCare et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.\r\n\r\nModdemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments. \nSources: Expert list, Expert Review; to: First two reported CAS cases with a ERF nonsense variant (Kaspi et al., 2022; PMID: 36117209) inherited from mother to proband.\r\n\r\nCare et al. (2022; PMID: 35761471) report 5 cases with ERF variants, and of these 3 have speech disorder.\r\n\r\nModdemann et al. (PMID: 35852485) conduct a meta-analysis of 79 independent samples with ERF variants and find 60% have speech delay/impairments. \r\nSources: Expert list, Expert Review","entity_name":"ERF","entity_type":"gene"},{"created":"2024-07-01T19:01:11.634187+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS proband with a de novo splice DIP2C variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nHa 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. \nSources: Expert list, Expert Review; to: First reported CAS proband with a de novo DIP2C splice acceptor variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nHa 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. \r\nSources: Expert list, Expert Review","entity_name":"DIP2C","entity_type":"gene"},{"created":"2024-07-01T18:58:45.879758+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS proband with a de novo missense BRPF1 variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nYan 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).\r\n\r\nMorison 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. \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo BRPF1 missense variant (Kaspi et al., 2022; PMID: 36117209).\r\n\r\nYan 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).\r\n\r\nMorison 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. \r\nSources: Expert list, Expert Review","entity_name":"BRPF1","entity_type":"gene"},{"created":"2024-07-01T18:56:05.522425+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo ARHGEF9 nonsense variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2024-07-01T18:53:14.219805+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with splice acceptor ZFHX4 variant reported for CAS (Eising et al., 2019; PMID: 29463886).\r\n\r\nFontana 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. \nSources: Expert list, Expert Review; to: First reported CAS case with a ZFHX4 splice acceptor variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nFontana 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. \r\nSources: Expert list, Expert Review","entity_name":"ZFHX4","entity_type":"gene"},{"created":"2024-07-01T18:51:01.613625+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nBlok 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.\" However, only 1 was diagnosed with speech dyspraxia.\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nSnijders 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.\" However, only 1 was diagnosed with speech dyspraxia.\r\n\r\nSources: Expert list, Expert Review","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-07-01T18:49:44.754615+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"edited their review of gene: WDR5: Changed rating: AMBER","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-07-01T18:49:34.776854+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nBlok 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.\" \r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nBlok 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.\" However, only 1 was diagnosed with speech dyspraxia.\r\n\r\nSources: Expert list, Expert Review","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-07-01T18:45:43.192089+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al. (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2024-07-01T18:45:30.752403+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2024-07-01T18:44:45.943802+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with a de novo missense WDR5 variant reported for CAS (Eising et al., 2019; PMID: 29463886).\r\n\r\nBlok 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.\" \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo WDR5 missense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nBlok 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.\" \r\nSources: Expert list, Expert Review","entity_name":"WDR5","entity_type":"gene"},{"created":"2024-07-01T18:34:05.053706+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B. \r\nSources: Expert list, Expert Review; to: First reported CAS case with a TNRC6B nonsense variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nThese additional supporting studies are for speech delay rather than speech apraxia per se:\r\n\r\nGranadillo 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)\".\r\n\r\nYahia 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.\r\n\r\nYang et al., (2024; PMID: 38404251) report two independent cases with speech delay/abnormalities carrying LoF variants in TNRC6B.\r\n\r\nSources: Expert list, Expert Review","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2024-07-01T18:30:01.013977+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with a LoF SETD1A variant reported for CAS (Eising et al., 2019; PMID: 29463886).\r\n\r\nFifteen 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).\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1A frameshift variant (Eising et al., 2019; PMID: 29463886)\r\n\r\nFifteen 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).\r\n\r\nSources: Expert list, Expert Review","entity_name":"SETD1A","entity_type":"gene"},{"created":"2024-07-01T18:27:03.568222+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review; to: First reported CAS case with a de novo SETD1B missense variant (Kaspi et al., 2022; PMID: 36117209). \r\nSources: Expert list, Expert Review","entity_name":"SETD1B","entity_type":"gene"},{"created":"2024-07-01T18:23:57.748230+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Thomas Scerri","item_type":"entity","text":"changed review comment from: First proband with LoF SETBP1 variant reported for CAS (Eising et al., 2019; PMID: 29463886)\r\n\r\nThirty 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.\". \nSources: Expert list, Expert Review; to: First reported CAS case with a SETBP1 frameshift variant reported for CAS (Eising et al., 2019; PMID: 29463886)\r\n\r\nThirty 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.\". \r\nSources: Expert list, Expert Review","entity_name":"SETBP1","entity_type":"gene"},{"created":"2024-06-29T08:48:20.619769+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.356","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZDHHC9 were set to PMID: 33528536; PMID: 38693247","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2024-06-29T08:46:58.041714+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZIC2 as ready","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-06-29T08:46:58.024378+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic2 has been classified as Red List (Low Evidence).","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-06-29T08:46:53.218224+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZIC2 as Red List (low evidence)","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-06-29T08:46:53.208363+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic2 has been classified as Red List (Low Evidence).","entity_name":"ZIC2","entity_type":"gene"},{"created":"2024-06-29T08:45:46.479584+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZBTB18 as ready","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2024-06-29T08:45:46.469889+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb18 has been classified as Red List (Low Evidence).","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2024-06-29T08:45:42.690080+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZBTB18 as Red List (low evidence)","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2024-06-29T08:45:42.674626+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zbtb18 has been classified as Red List (Low Evidence).","entity_name":"ZBTB18","entity_type":"gene"},{"created":"2024-06-29T08:45:30.983852+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRIP12 as ready","entity_name":"TRIP12","entity_type":"gene"},{"created":"2024-06-29T08:45:30.971909+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip12 has been classified as Red List (Low Evidence).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2024-06-29T08:45:26.995935+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRIP12 as Red List (low evidence)","entity_name":"TRIP12","entity_type":"gene"},{"created":"2024-06-29T08:45:26.984434+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trip12 has been classified as Red List (Low Evidence).","entity_name":"TRIP12","entity_type":"gene"},{"created":"2024-06-29T08:45:16.530826+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAOK2 as ready","entity_name":"TAOK2","entity_type":"gene"},{"created":"2024-06-29T08:45:16.518327+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taok2 has been classified as Red List (Low Evidence).","entity_name":"TAOK2","entity_type":"gene"}]}