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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1823",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1821",
"results": [
{
"created": "2020-04-22T14:26:50.126521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBAP1 were set to 31203368",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:20:10.129185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31696996; Phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:19:57.293320+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.10",
"user_name": "Eunice Chan",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)\nPhenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)\nAdded comment: PxD phenotype\r\n- intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise \nSources: Literature",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:17:23.713661+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBAP1 as ready",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:17:23.704435+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubap1 has been classified as Green List (High Evidence).",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:17:19.961937+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBAP1 as Green List (high evidence)",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:17:19.951480+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubap1 has been classified as Green List (High Evidence).",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:17:10.410378+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBAP1 was added\ngene: UBAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBAP1 were set to 31696996\nPhenotypes for gene: UBAP1 were set to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant\t618418\nMode of pathogenicity for gene: UBAP1 was set to Other\nReview for gene: UBAP1 was set to GREEN\nAdded comment: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex. \nSources: Literature",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-22T14:05:36.794605+10:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.10",
"user_name": "Eunice Chan",
"item_type": "entity",
"text": "commented on gene: PNKD",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:56:02.391829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:55:04.856948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHOA were set to 31570889",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:54:39.821277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31821646; Phenotypes: hypopigmented areas of the skin, dental anomalies, body asymmetry, limb length discrepancy, MRI abnormalities; Mode of inheritance: Other",
"entity_name": "RHOA",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:48:43.740603+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NTNG2: Changed phenotypes: Intellectual disability, autism, dysmorphic features, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:48:28.148281+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NTNG2 were set to 31668703",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:47:42.507880+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NTNG2: Added comment: Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).; Changed publications: 31668703, 31692205",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:43:58.872706+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAF1 as ready",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:43:58.863230+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taf1 has been classified as Green List (High Evidence).",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:43:54.499894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAF1 were changed from to Mental retardation, X-linked, syndromic 33, MIM# 300966",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:43:25.261894+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAF1 were set to ",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:41:25.922068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAF1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:40:53.809882+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31646703; Phenotypes: Mental retardation, X-linked, syndromic 33, MIM# 300966; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAF1",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:38:28.698325+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN1A as ready",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:38:28.685059+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn1a has been classified as Green List (High Evidence).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:38:24.669531+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN1A were changed from to Epilepsy, generalized, with febrile seizures plus, type 2 604403; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208; Febrile seizures, familial, 3A 604403",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:37:30.965433+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:37:01.261146+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 2 604403, Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208, Febrile seizures, familial, 3A 604403; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:25:23.353021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCE as ready",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:25:23.344409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:25:14.419253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQCE as Green List (high evidence)",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:25:14.405540+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:24:53.975507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCE was added\ngene: IQCE was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQCE were set to 31549751; 28488682\nPhenotypes for gene: IQCE were set to Postaxial polydactyly\nReview for gene: IQCE was set to GREEN\nAdded comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects. \nSources: Literature",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:23:12.965308+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IQCE as ready",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:23:12.948902+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:23:09.188414+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IQCE as Green List (high evidence)",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:23:09.176197+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iqce has been classified as Green List (High Evidence).",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:22:39.976837+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCE was added\ngene: IQCE was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IQCE were set to 31549751; 28488682\nPhenotypes for gene: IQCE were set to Postaxial polydactyly\nReview for gene: IQCE was set to GREEN\nAdded comment: Four families reported with bi-allelic variants in this gene. The c.895_904del (p.Val301Serfs*8) was found in three of the families without sharing a common haplotype, suggesting a recurrent mechanism. RNA expression analysis on patients’ fibroblasts showed that the dysfunction of IQCE leads to the dysregulation of genes associated with the hedgehog‐signaling pathway, and zebrafish experiments demonstrated a full spectrum of phenotypes linked to defective cilia: Body curvature, kidney cysts, left–right asymmetry, misdirected cilia in the pronephric duct, and retinal defects. \nSources: Literature",
"entity_name": "IQCE",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:15:09.872211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX2-3 as ready",
"entity_name": "NKX2-3",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:15:09.859246+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx2-3 has been classified as Red List (Low Evidence).",
"entity_name": "NKX2-3",
"entity_type": "gene"
},
{
"created": "2020-04-22T09:14:59.541415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-3 was added\ngene: NKX2-3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NKX2-3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NKX2-3 were set to 31498527\nPhenotypes for gene: NKX2-3 were set to Intestinal varicosities\nReview for gene: NKX2-3 was set to RED\nAdded comment: Single multiplex family where truncating variant in this gene segregated with intestinal varicosities with a LOD score of 3.3. NKX2‐3 is a component of a molecular pathway underlying spleen and gut vasculature development in mice. \nSources: Literature",
"entity_name": "NKX2-3",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:03:05.914315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four families reported with mono allelic variants and idiopathic intestinal varies.; to: Four families reported with mono allelic variants and idiopathic intestinal varies, often in combination with asplenia.",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:02:42.055580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPSA as ready",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:02:42.046914+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpsa has been classified as Green List (High Evidence).",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:02:23.689542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPSA were changed from to Asplenia, isolated congenital 271400; Idiopathic intestinal varices",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:02:10.244952+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPSA were set to ",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:01:56.722162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPSA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T22:01:38.010743+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23579497, 31498527; Phenotypes: Asplenia, isolated congenital 271400, Idiopathic intestinal varices; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPSA",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:57:15.417896+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBX6 were changed from to Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:56:53.195463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX6 were set to ",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:53:31.912554+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRAT as ready",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:53:31.903648+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:53:27.830300+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRAT as Amber List (moderate evidence)",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:53:27.821343+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:52:57.376928+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRAT was added\ngene: CRAT was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRAT were set to 29395073; 31448845\nPhenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM#\t617917; Leigh syndrome\nReview for gene: CRAT was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype. \nSources: Literature",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:51:36.813172+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRAT as ready",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:51:36.801231+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:51:19.708059+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRAT as Amber List (moderate evidence)",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:51:19.695041+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:50:49.617145+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRAT was added\ngene: CRAT was added to Regression. Sources: Literature\nMode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRAT were set to 29395073; 31448845\nPhenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM#\t617917; Leigh syndrome\nReview for gene: CRAT was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype. \nSources: Literature",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:49:15.932387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRAT as ready",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:49:15.922785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:10:03.945520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRAT as Amber List (moderate evidence)",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:10:03.936082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crat has been classified as Amber List (Moderate Evidence).",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:09:42.990980+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRAT was added\ngene: CRAT was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRAT were set to 29395073; 31448845\nPhenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM#\t617917; Leigh syndrome\nReview for gene: CRAT was set to AMBER\nAdded comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype. \nSources: Literature",
"entity_name": "CRAT",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:04:14.034961+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNB1 as ready",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:04:14.025627+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnb1 has been classified as Green List (High Evidence).",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:04:10.098035+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:03:44.446874+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNB1 were set to ",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:03:19.838190+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:02:48.305516+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:01:43.596913+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNB1 as ready",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:01:43.586553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnb1 has been classified as Green List (High Evidence).",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:01:37.620015+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNB1 were changed from to Epileptic encephalopathy, early infantile, 26, MIM# 616056",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:01:10.456778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNB1 were set to ",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:00:41.446146+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T21:00:07.251782+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2020-04-21T20:02:13.137263+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.105",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-21T19:57:58.260679+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KLC2 as ready",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T19:57:58.247630+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klc2 has been classified as Green List (High Evidence).",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T19:57:44.638548+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KLC2 as Green List (high evidence)",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T19:57:44.632459+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing.",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T19:57:44.604517+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.104",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: klc2 has been classified as Green List (High Evidence).",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T19:56:12.446964+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.103",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLC2 was added\ngene: KLC2 was added to Optic Atrophy. Sources: Literature\nSV/CNV tags were added to gene: KLC2.\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC2 were set to 26385635\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541\nReview for gene: KLC2 was set to GREEN\nAdded comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Optic atrophy is a feature of the condition. \nSources: Literature",
"entity_name": "KLC2",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:44:01.445921+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCL11A as ready",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:44:01.432609+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcl11a has been classified as Green List (High Evidence).",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:43:47.143832+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCL11A were changed from to Dias-Logan syndrome, MIM# 617101",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:43:18.099272+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BCL11A were set to ",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:42:45.333669+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BCL11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BCL11A",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:41:22.682125+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:41:22.668489+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:41:17.121962+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB as Amber List (moderate evidence)",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:41:17.112948+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Amber List (Moderate Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:40:35.517348+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1G as ready",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:40:35.505020+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1g has been classified as Green List (High Evidence).",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:40:31.276305+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1G as Green List (high evidence)",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:40:31.263614+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1g has been classified as Green List (High Evidence).",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:39:40.079012+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC6B as ready",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:39:40.066692+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc6b has been classified as Red List (Low Evidence).",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:39:28.961386+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC6B were changed from to Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MIM#617862)",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:38:50.800760+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC6B were set to ",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
},
{
"created": "2020-04-21T18:38:27.982052+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC6B",
"entity_type": "gene"
}
]
}