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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=433",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=431",
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{
"created": "2024-06-25T23:38:11.647642+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: DIP2C was added\ngene: DIP2C was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: DIP2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DIP2C were set to 36117209; 38421105\nPhenotypes for gene: DIP2C were set to Neurodevelopmental disorder (MONDO:0700092), DIP2C-related\nReview for gene: DIP2C was set to AMBER\nAdded comment: 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",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-06-25T22:27:11.215315+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: BRPF1 was added\ngene: BRPF1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BRPF1 were set to 36117209; 27939640; 38346666\nPhenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333\nReview for gene: BRPF1 was set to GREEN\nAdded comment: 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",
"entity_name": "BRPF1",
"entity_type": "gene"
},
{
"created": "2024-06-25T22:10:55.398636+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: ARHGEF9 was added\ngene: ARHGEF9 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode 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)\nPublications for gene: ARHGEF9 were set to 36117209\nPhenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM# 300607\nReview for gene: ARHGEF9 was set to RED\nAdded comment: Only reported CAS proband with a de novo nonsense ARHGEF9 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-25T21:48:26.029757+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: ZNF142 was added\ngene: ZNF142 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: ZNF142 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZNF142 were set to 32345733; 31036918; 34531528; 35616059\nPhenotypes for gene: ZNF142 were set to Neurodevelopmental disorder with impaired speech and hyperkinetic movements, MIM# 618425\nReview for gene: ZNF142 was set to AMBER\nAdded comment: 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",
"entity_name": "ZNF142",
"entity_type": "gene"
},
{
"created": "2024-06-25T21:15:05.047743+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: UPF2 was added\ngene: UPF2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: UPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UPF2 were set to 32345733; 31585809\nPhenotypes for gene: UPF2 were set to Neurodevelopmental disorder (MONDO:0700092), UPF2-related\nReview for gene: UPF2 was set to RED\nAdded comment: 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",
"entity_name": "UPF2",
"entity_type": "gene"
},
{
"created": "2024-06-25T20:31:03.021270+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: POGZ was added\ngene: POGZ was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGZ were set to 32345733; 35052493\nPhenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364\nReview for gene: POGZ was set to RED\nAdded comment: 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",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-06-25T20:21:08.540561+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: MEIS2 was added\ngene: MEIS2 was added to Speech apraxia. Sources: Expert Review,Expert list\nMode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEIS2 were set to 32345733; 30055086\nPhenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and impaired intellectual development, MIM# 600987\nReview for gene: MEIS2 was set to AMBER\nAdded comment: 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",
"entity_name": "MEIS2",
"entity_type": "gene"
},
{
"created": "2024-06-25T20:05:51.609246+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB1 were set to 32345733\nPhenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973\nReview for gene: GNB1 was set to RED\nAdded comment: Only reported CAS proband with a de novo nonsense GNB1 variant (Hildebrand et al., 2020; PMID: 32345733). \nSources: Expert list, Expert Review",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2024-06-25T19:35:35.684910+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: GNAO1 was added\ngene: GNAO1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAO1 were set to 32345733; 35722775; 38881224\nPhenotypes for gene: GNAO1 were set to Developmental and epileptic encephalopathy 17, MIM# 615473; Neurodevelopmental disorder with involuntary movements, MIM# 617493\nReview for gene: GNAO1 was set to AMBER\nAdded comment: 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",
"entity_name": "GNAO1",
"entity_type": "gene"
},
{
"created": "2024-06-25T19:24:40.106076+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"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. 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 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",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2024-06-25T19:24:01.817009+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"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. \nSources: Expert list, Expert Review; to: 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. 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": "2024-06-25T19:04:19.898227+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nSecond proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209)\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%)\". \nSources: Expert list, Expert Review; to: 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",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-25T18:40:25.780130+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: TNRC6B: Changed rating: AMBER",
"entity_name": "TNRC6B",
"entity_type": "gene"
},
{
"created": "2024-06-25T18:40:19.996171+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"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\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. \nSources: Expert list, Expert Review; to: 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",
"entity_name": "TNRC6B",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:52:39.596756+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.\r\n\r\n1 additional female with a de novo heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536); to: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity.\r\n\r\n1 additional female with a de novo likely pathogenic heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:52:13.778645+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID 33528536; Phenotypes: Opitz-Kaveggia syndrome, MIM#305450; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:51:16.045177+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:49:16.129295+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity. \nSources: Literature; to: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity. \r\n\r\n1 additional female with a de novo heterozygous variant reported in large retrospective cohort study of patients with cerebral palsy (PMID 33528536)\r\nSources: Literature",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:46:28.185793+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MED12 were set to PMID: 38693247\nPhenotypes for gene: MED12 were set to Opitz-Kaveggia syndrome, MIM#305450\nReview for gene: MED12 was set to RED\nAdded comment: 3 individuals reported with hemizygous variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Two variants lack in silico support for pathogenicity. \nSources: Literature",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:38:07.417625+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID 33528536; Phenotypes: CRASH syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:28:42.769587+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:25:09.912577+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Hyperuricemia, HRPT-related MIM#300323, Lesch-Nyhan syndrome MIM#300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:22:40.130047+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HCFC1 were set to PMID: 38693247\nPhenotypes for gene: HCFC1 were set to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541\nReview for gene: HCFC1 was set to AMBER\nAdded comment: 2 males reported with hemizygous LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MAHCX is characterized by severely delayed psychomotor development apparent in infancy. \nSources: Literature",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:16:00.548198+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Changed rating: AMBER",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:15:45.152514+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: SETD1A: Changed rating: RED",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:15:05.670532+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"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)\". \nSources: Expert list, Expert Review; to: 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",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:10:26.933077+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. \nSources: Literature; to: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in CCDC22 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. \r\nSources: Literature",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-06-25T17:05:47.219297+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: FGD1 was added\ngene: FGD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FGD1 were set to PMID: 38693247; PMID:33528536\nPhenotypes for gene: FGD1 were set to Aarskog-Scott syndrome; Intellectual developmental disorder, X-linked syndromic 16, MIM#305400\nReview for gene: FGD1 was set to RED\nAdded comment: 1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Additional male with de novo hemizygous pathogenic variant reported in a clinical laboratory referral cohort (PMID:33528536). No clear phenotypic overlap with CP. \nSources: Literature",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2024-06-25T16:53:21.399722+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: EBP was added\ngene: EBP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EBP were set to PMID: 38693247\nPhenotypes for gene: EBP were set to MEND syndrome, MIM#300960\nReview for gene: EBP was set to RED\nAdded comment: 1 individual reported with hemizygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. MEND syndrome is associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia). \nSources: Literature",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2024-06-25T16:30:00.196993+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: EBF3 was added\ngene: EBF3 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: EBF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EBF3 were set to 32345733; 28017372\nPhenotypes for gene: EBF3 were set to Hypotonia, ataxia, and delayed development syndrome, MIM# 617330\nReview for gene: EBF3 was set to GREEN\nAdded comment: 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. \nSources: Expert list, Expert Review",
"entity_name": "EBF3",
"entity_type": "gene"
},
{
"created": "2024-06-25T16:18:37.226741+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Speech apraxia. Sources: Expert list,Expert Review\nMode 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)\nPublications for gene: DDX3X were set to 32345733; 36117209; 37904618\nPhenotypes for gene: DDX3X were set to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, MIM# 300958\nReview for gene: DDX3X was set to GREEN\nAdded comment: First proband with a de novo LoF DDX3X variant reported for CAS (Hildebrand et al., 2020; PMID: 32345733).\r\n\r\nSecond proband with a de novo LoF DDX3X variant reported for CAS (Kaspi et al., 2022; PMID: 36117209)\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%)\". \nSources: Expert list, Expert Review",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2024-06-25T16:04:51.241340+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37789889; Phenotypes: Raynaud-Claes syndrome MIM#300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CLCN4",
"entity_type": "gene"
},
{
"created": "2024-06-25T15:48:17.169862+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CCDC22 was added\ngene: CCDC22 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: CCDC22 were set to PMID: 38693247\nPhenotypes for gene: CCDC22 were set to Ritscher-Schinzel syndrome 2, MIM#300963\nReview for gene: CCDC22 was set to RED\nAdded comment: 1 individual reported with hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Mutations in RTSC2 cause syndromic ID, with hypotonia and delayed psychomotor development reported in some individuals. \nSources: Literature",
"entity_name": "CCDC22",
"entity_type": "gene"
},
{
"created": "2024-06-25T14:01:09.069800+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.264",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T14:00:43.636131+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.186",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T14:00:39.100780+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.263",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T14:00:08.220110+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6045",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:47.082882+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.21",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:42.401880+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6044",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:39.282494+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1846",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:27.116831+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.20",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:12.274127+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.185",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:59:03.472944+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.262",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T13:58:38.646052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1845",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features\tMIM#620086",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2024-06-25T12:48:48.637998+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2024-06-25T12:47:33.317896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTCL1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MTCL1",
"entity_type": "gene"
},
{
"created": "2024-06-25T12:39:35.129483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6043",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF292 were changed from Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; autism; ADHD to Intellectual developmental disorder, autosomal dominant 64\tMIM#619188",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2024-06-25T12:39:09.232776+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1843",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF292 were changed from Intellectual developmental disorder, autosomal dominant 63, MIM# 619188; Intellectual disability; Autism; ADHD to Intellectual developmental disorder, autosomal dominant 64\tMIM#619188",
"entity_name": "ZNF292",
"entity_type": "gene"
},
{
"created": "2024-06-25T03:26:12.844484+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: CDK13 was added\ngene: CDK13 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDK13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDK13 were set to 32345733; 36599938\nPhenotypes for gene: CDK13 were set to Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360\nReview for gene: CDK13 was set to GREEN\nAdded comment: 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",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2024-06-25T02:43:03.061021+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: ZFHX4 was added\ngene: ZFHX4 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX4 were set to 29463886; 34461323\nPhenotypes for gene: ZFHX4 were set to Neurodevelopmental disorder (MONDO:0700092), ZFHX4-related\nReview for gene: ZFHX4 was set to RED\nAdded comment: 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",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2024-06-25T01:52:25.803275+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: WDR5 was added\ngene: WDR5 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WDR5 were set to 29463886; 36408368\nPhenotypes for gene: WDR5 were set to Neurodevelopmental disorder (MONDO:0700092), WDR5-related\nReview for gene: WDR5 was set to GREEN\nAdded comment: 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",
"entity_name": "WDR5",
"entity_type": "gene"
},
{
"created": "2024-06-25T00:48:16.283509+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: TNRC6B was added\ngene: TNRC6B was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNRC6B were set to 29463886; 32152250; 38300321; 38404251\nPhenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, MIM# 619243\nReview for gene: TNRC6B was set to GREEN\nAdded comment: First proband with a LoF TNRC6B variant reported for CAS (Eising et al., 2019; PMID: 29463886).\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. \nSources: Expert list, Expert Review",
"entity_name": "TNRC6B",
"entity_type": "gene"
},
{
"created": "2024-06-24T23:24:48.790962+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SETD1A was added\ngene: SETD1A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1A were set to 29463886; 32346159\nPhenotypes for gene: SETD1A were set to Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM# 619056\nReview for gene: SETD1A was set to GREEN\nAdded comment: 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)\". \nSources: Expert list, Expert Review",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T23:02:01.371525+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SETBP1 was added\ngene: SETBP1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETBP1 were set to 29463886; 33907317\nPhenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM# 616078\nReview for gene: SETBP1 was set to GREEN\nAdded comment: 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",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:41:50.716324+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROGDI as ready",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:41:50.705871+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Red List (Low Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:41:46.393738+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROGDI as Red List (low evidence)",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:41:46.383271+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rogdi has been classified as Red List (Low Evidence).",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:29:40.722270+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTTN as ready",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:29:40.706179+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rttn has been classified as Red List (Low Evidence).",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:29:36.284770+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTTN as Red List (low evidence)",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:29:36.276185+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rttn has been classified as Red List (Low Evidence).",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:28:26.953419+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A12 as ready",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:28:26.931595+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a12 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:28:23.010625+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A12 as Red List (low evidence)",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:28:23.001013+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a12 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:27:44.408812+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNE1 were changed from Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 to Spinocerebellar ataxia, autosomal recessive 8 MIM#610743",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:21:06.968036+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SYNE1 were set to 34321325; 34816117",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:20:04.520018+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TH were set to 34788679",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:19:24.111865+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TH as Green List (high evidence)",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:19:24.102766+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:52.058228+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:52.046738+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Red List (Low Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:47.964749+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS13B as Red List (low evidence)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:47.946296+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Red List (Low Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:05.182948+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS53 as ready",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:05.165289+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Red List (Low Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:00.183213+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VPS53 as Red List (low evidence)",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:17:00.159048+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps53 has been classified as Red List (Low Evidence).",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:03:23.436125+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR62 as ready",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:03:23.425028+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Red List (Low Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:03:04.044885+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR62 as Red List (low evidence)",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-06-24T19:03:04.032598+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr62 has been classified as Red List (Low Evidence).",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:59:00.659498+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDKL5 were set to 33528536; 34788679",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:55:27.467202+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HUWE1 were set to 31700678",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:54:56.276686+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HUWE1 as Amber List (moderate evidence)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:54:56.267502+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: huwe1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:48:42.956888+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder MIM#309530",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:48:07.433405+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IQSEC2 were set to 33368194; 20473311; 23674175; 33528536",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:47:11.550003+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MECP2 were set to 30542205; 33528536",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:45:29.632048+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHA1 were set to 33528536; 10486093",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:44:43.575441+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:44:43.561200+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:44:39.808173+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A2 as Red List (low evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:44:39.795791+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Red List (Low Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:43:59.183492+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMC1A as ready",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:43:59.171753+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Red List (Low Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:43:03.694800+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMC1A as Red List (low evidence)",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:43:03.685628+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smc1a has been classified as Red List (Low Evidence).",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:42:28.113215+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCD1 as ready",
"entity_name": "ABCD1",
"entity_type": "gene"
}
]
}