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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=429",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=427",
"results": [
{
"created": "2024-06-29T08:45:12.648249+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAOK2 as Red List (low evidence)",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:45:12.638658+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"
},
{
"created": "2024-06-29T08:45:00.507443+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAST as ready",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:45:00.483447+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Red List (Low Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:46.436185+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAST as Red List (low evidence)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:46.424200+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Red List (Low Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:35.570784+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHANK3 as ready",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:35.556848+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:31.289095+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHANK3 as Green List (high evidence)",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:31.277922+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shank3 has been classified as Green List (High Evidence).",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:11.426817+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETD1B as ready",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:44:11.417759+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1b has been classified as Red List (Low Evidence).",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:43:58.205710+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SETD1B as Red List (low evidence)",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:43:58.173961+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setd1b has been classified as Red List (Low Evidence).",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:42:50.858242+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX3 as ready",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:42:50.846705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:42:40.613976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX3 as Amber List (moderate evidence)",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:42:40.603140+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:42:22.519416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBFOX3 was added\ngene: RBFOX3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX3 were set to 35951651; 36117209; 24039908\nPhenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related\nReview for gene: RBFOX3 was set to AMBER\nAdded comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models. \nSources: Literature",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:41:03.013954+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX3 as ready",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:41:03.005221+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:40:55.040022+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX3 as Amber List (moderate evidence)",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:40:55.026105+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:40:09.225191+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBFOX3 was added\ngene: RBFOX3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX3 were set to 35951651; 36117209; 24039908\nPhenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related\nReview for gene: RBFOX3 was set to AMBER\nAdded comment: Reported as a candidate gene for epilepsy, particularly Rolandic epilepsy. Two supportive animal models. \nSources: Literature",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:37:59.635645+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBFOX3 as ready",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:37:59.625638+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:36:14.376539+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBFOX3 as Amber List (moderate evidence)",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:36:14.364855+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbfox3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:31:46.729413+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRXCR2 were set to 24619944",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:31:28.842878+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRXCR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:31:06.318790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRXCR2 as Green List (high evidence)",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:31:06.309063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr2 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:30:46.866444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRXCR2: Added comment: PMID:33528103 reported another family and an unrelated individual from Cameroon with a different homozygous variant (c.251delC/ p.Ile85SerfsTer33).; Changed rating: GREEN; Changed publications: 24619944, 33528103",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:28:29.923588+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRXCR2 were set to 24619944",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:27:59.768360+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRXCR2 as Green List (high evidence)",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T08:27:59.752710+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grxcr2 has been classified as Green List (High Evidence).",
"entity_name": "GRXCR2",
"entity_type": "gene"
},
{
"created": "2024-06-29T01:45:14.309231+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). \r\nSources: Expert list, Expert Review; to: First reported CAS case with a MKL2 splice acceptor variant (Eising et al., 2019; PMID: 29463886). However, it is only predicted to be likely pathogenic and is observed 500+ times in gnomad v4 and has a low variant quality score.\r\n\r\nAndrews et al. (2023; PMID: 37013900) identify two cases with de novo MKL2 missense variants (p.R104G and p.A91P) with reported gain of function. One case is reported with apraxia and the other with speech apraxia (Table 1).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-29T01:31:52.766587+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"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\nKennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with CHD3 variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.\r\n\r\nSt John et al. (2022; PMID: 35892268) examined 49 cases and found \"Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired.\" In detail, \"Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. \"\r\n\r\n\r\nSources: Expert list, Expert Review; to: First reported CAS case with a KAT6A splice acceptor variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nKennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with KAT6A variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.\r\n\r\nSt John et al. (2022; PMID: 35892268) examined 49 cases with KAT6A variants and found \"Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired.\" In detail, \"Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. \"\r\n\r\n\r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-29T01:19:14.144003+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: Additional phenotypes: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112). \r\nSources: Expert list, Expert Review; to: First reported CAS case with a de novo missense CHD3 variant (Eising et al., 2019; PMID: 29463886).\r\n\r\nKennedy et al. (2019; PMID: 30245513) examined 76 cases (including 52 new cases) with CHD3 variants and found speech delay was a core feature, and report 1 case diagnosed with oromotor dyspraxia.\r\n\r\nSt John et al. (2022; PMID: 35892268) examined 49 cases and found \"Verbal participants (13/49) displayed complex and co-occurring speech diagnoses regarding the perception/production of speech sounds, including phonological impairment (i.e., linguistic deficits) and speech apraxia (i.e., motor planning/programming deficits), which significantly impacted intelligibility. Receptive/expressive language and adaptive functioning were also severely impaired.\" In detail, \"Across the 13 verbal participants, speech profiles, and intelligibility were varied (Table 2). 10/13 verbal participants were female (77%). 11/13 had delayed speech milestones, some not achieving first words until >18 months and others not combining words until >8 years of age. Verbal participants had a range of speech disorder subtypes, and most had at least two diagnoses (Figure 1c). Phonological delay was most common (8/13, 63%), followed by phonological disorder (7/13, 54%) and CAS (7/13, 54%), but all three conditions always co-occurred with at least one other speech diagnosis. \"\r\n\r\n\r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-29T00:40:49.505960+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: Additional phenotypes: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).; to: 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.",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-28T17:05:19.749646+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: YY1AP1 as ready",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-06-28T17:05:19.729873+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: yy1ap1 has been classified as Red List (Low Evidence).",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-06-28T17:05:15.207559+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: YY1AP1: Changed publications: 37979122, 33125268",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-06-28T17:05:02.799989+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: YY1AP1 was added\ngene: YY1AP1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: YY1AP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YY1AP1 were set to Grange syndrome, MIM# 602531\nReview for gene: YY1AP1 was set to RED\ngene: YY1AP1 was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nPMID: 33125268 was cited in paper above.\r\n1x individual with a canonical splice + 1x protein truncating variant. However, phasing could not be performed\r\n\r\nno other literature found \nSources: Literature",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-06-28T17:01:15.264463+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZIC2 were set to PMID: 38553553\nPhenotypes for gene: ZIC2 were set to Holoprosencephaly, MIM#609637\nReview for gene: ZIC2 was set to RED\nAdded comment: Single individual with de novo frameshift deletion described in WGS study of clinically confirmed CP (PMID: 38553553). \nSources: Literature",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:58:39.751877+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PKD1 were set to 35630097; 26798684; 26971055",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:58:31.326687+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: PKD1: Changed publications: 35630097, 26798684, 26971055, 29650765; Changed phenotypes: Polycystic kidney disease 1 MIM#173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:58:26.022880+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 37979122; listed as \"likely monogenic disease effect\" \r\n\r\n\r\nMultiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055)\r\n\r\nPMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants \nSources: Literature; to: PMID: 37979122; listed as \"likely monogenic disease effect\" \r\n\r\nMultiple reports of SCAD in ADPKD individuals. However, genetics analysis were not performed in any of them. (PMID: 35630097, 26798684, 26971055)\r\n\r\nPMID: 35630097; Manuscript also reviews spontaneous ICA dissection with ADPKD but no variants \r\nSources: Literature\r\n\r\nPMID: 29650765; reports 1x SCAD + ADPKD Individual with Cys37Tyr which is absent in gnomad and clinvar",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:51:31.044544+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TSR1 as ready",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:51:31.034826+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tsr1 has been classified as Red List (Low Evidence).",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:51:27.233489+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.30",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TSR1 was added\ngene: TSR1 was added to Spontaneous coronary artery dissection. Sources: Literature\nMode of inheritance for gene: TSR1 was set to Unknown\nPublications for gene: TSR1 were set to PMID: 31296288; 31296287; 37979122\nReview for gene: TSR1 was set to RED\ngene: TSR1 was marked as current diagnostic\nAdded comment: PMID: 37979122; listed as \"likely monogenic disease effect\"\r\n\r\nPMID: 31296287 was cited by paper above. \r\nSCAD cohort with WES performed and 'rare' variants filtered for. However, the variants have the following het counts in gnomad v4\r\nArg772Gln 27 hets 0 homs\r\nArg622Cys 45 hets 0 homs\r\nArg497Gln 7125 hets 33 homs\r\nTrp556* absent\r\nArg499Pro absent\r\nM1fs absent\r\n\r\nPMID: 31296288 reviews PMID: 31296287 \r\n\r\nthis gene is NOT constraint for LoF in gnomad v4 with 81 hets having an NMD nonsense hets \nSources: Literature",
"entity_name": "TSR1",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:25:26.100596+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: ZDHHC9: Added comment: Additional hemizygous male (maternally inherited) with splice variant described in WGS study of clinically confirmed CP (PMID: 38553553).; Changed publications: PMID: 33528536, PMID: 38693247, PMID: 38553553",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:07:59.947644+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: ZBTB18 was added\ngene: ZBTB18 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB18 were set to 36117209\nPhenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM# 612337\nReview for gene: ZBTB18 was set to RED\nAdded comment: First reported CAS case with an de novo nonsense ZBTB18 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:05:29.116180+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: TRIP12 was added\ngene: TRIP12 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIP12 were set to 36117209\nPhenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM# 617752\nReview for gene: TRIP12 was set to RED\nAdded comment: First reported CAS case with a de novo exon duplication of TRIP12 (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-06-28T16:01:56.034822+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: TAOK2 was added\ngene: TAOK2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAOK2 were set to 36117209\nPhenotypes for gene: TAOK2 were set to Neurodevelopmental disorder (MONDO:0700092), TAOK2-related\nReview for gene: TAOK2 was set to RED\nAdded comment: First reported CAS case with an de novo missense TAOK2 variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2024-06-28T15:58:51.313020+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SPAST was added\ngene: SPAST was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPAST were set to 36117209\nPhenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant, MIM# 182601\nReview for gene: SPAST was set to RED\nAdded comment: First reported CAS case with an de novo missense SPAST variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-06-28T15:52:17.072328+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SHANK3 were set to 36117209; 33293697\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MIM# 606232\nReview for gene: SHANK3 was set to GREEN\nAdded comment: 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",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2024-06-28T15:28:38.463849+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SETD1B was added\ngene: SETD1B was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD1B were set to 36117209\nPhenotypes for gene: SETD1B were set to Intellectual developmental disorder with seizures and language delay, MIM# 619000\nReview for gene: SETD1B was set to RED\nAdded comment: First reported CAS case with a de novo missense SETD1B variant (Kaspi et al., 2022; PMID: 36117209). \nSources: Expert list, Expert Review",
"entity_name": "SETD1B",
"entity_type": "gene"
},
{
"created": "2024-06-28T15:10:52.128939+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: RBFOX3 was added\ngene: RBFOX3 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: RBFOX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX3 were set to 36117209; 24039908\nPhenotypes for gene: RBFOX3 were set to Neurodevelopmental disorder (MONDO:0700092), RBFOX3-related\nReview for gene: RBFOX3 was set to AMBER\nAdded comment: First reported CAS case with a paternally inherited nonsense RBFOX3 variant (Kaspi et al., 2022; PMID: 36117209). The carrier father was also affected.\r\n\r\nLal et al. (2013; PMID: 24039908) report two cases with nonsense RBFOX3 variants, both with initial speech or language delay, and one of which with \"Moderate developmetal delay, delayed speech development, mild oral dyspraxia\". \nSources: Expert list, Expert Review",
"entity_name": "RBFOX3",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:58:42.049677+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDE10A as ready",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:58:42.037820+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde10a has been classified as Red List (Low Evidence).",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:58:36.914730+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDE10A as Red List (low evidence)",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:58:36.891778+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde10a has been classified as Red List (Low Evidence).",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:56:16.338322+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHIP as Green List (high evidence)",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:56:16.328706+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Green List (High Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:55:37.538005+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHKA2 as ready",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:55:37.522893+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka2 has been classified as Red List (Low Evidence).",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:55:28.664669+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHKA2 as Red List (low evidence)",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:55:28.655236+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phka2 has been classified as Red List (Low Evidence).",
"entity_name": "PHKA2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:54:51.991051+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:54:51.972896+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:54:43.210054+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIK3R2 as Amber List (moderate evidence)",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:54:43.199490+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:53:35.334184+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX2 as ready",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:53:35.310520+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Red List (Low Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:50:46.728512+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOX2 as Red List (low evidence)",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:50:46.715116+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox2 has been classified as Red List (Low Evidence).",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:50:02.830794+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPK as ready",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:50:02.815937+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Red List (Low Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:59.321024+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPK as Red List (low evidence)",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:59.308127+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpk has been classified as Red List (Low Evidence).",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:47.819256+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:47.805377+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Red List (Low Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:41.819262+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KDM5C as Red List (low evidence)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:41.804276+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Red List (Low Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:10.210956+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF21A as ready",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:49:10.195098+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Red List (Low Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:46:46.151348+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHF21A as Red List (low evidence)",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:46:46.142093+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf21a has been classified as Red List (Low Evidence).",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:46:25.521296+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PURA as ready",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:46:25.506356+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Red List (Low Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:45:59.827255+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PURA as Red List (low evidence)",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:45:59.805397+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pura has been classified as Red List (Low Evidence).",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:41:28.091311+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERG as Green List (high evidence)",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:41:28.081480+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: erg has been classified as Green List (High Evidence).",
"entity_name": "ERG",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:38:12.232675+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP12 as ready",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:38:12.220034+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.349",
"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": "2024-06-28T14:38:04.623764+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIP12 as Red List (low evidence)",
"entity_name": "TRIP12",
"entity_type": "gene"
},
{
"created": "2024-06-28T14:38:04.609856+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.349",
"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": "2024-06-28T13:45:49.673293+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.348",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TRIP12 was added\ngene: TRIP12 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TRIP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIP12 were set to PMID: 36747006\nPhenotypes for gene: TRIP12 were set to Intellectual developmental disorder, autosomal dominant 49, MIM#617752\nReview for gene: TRIP12 was set to RED\nAdded comment: Single individual with de novo splice variant described in WGS study of clinically confirmed CP (PMID: 38553553). Motor delays are reported to be common in TRIP12 syndrome. \nSources: Literature",
"entity_name": "TRIP12",
"entity_type": "gene"
}
]
}