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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1549",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1547",
"results": [
{
"created": "2020-10-08T11:17:14.451937+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXC1 were changed from to Axenfeld-Rieger syndrome, type 3, MIM# 602482",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:16:45.709620+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:16:18.238254+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Axenfeld-Rieger syndrome, type 3, MIM# 602482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:15:32.116658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP1B1 were set to 21730847; 27243976",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:14:19.158631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:13:22.899646+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYP1B1 as ready",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:13:22.890168+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyp1b1 has been classified as Green List (High Evidence).",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:13:19.224239+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYP1B1 were changed from to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:12:50.705697+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP1B1 were set to ",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:12:24.171000+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP1B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T11:11:55.514920+11:00",
"panel_name": "Glaucoma congenital",
"panel_id": 105,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYP1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9463332, 10655546, 12372064, 21081970; Phenotypes: Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2020-10-08T10:04:48.768682+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-08T09:54:26.342366+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN4A as ready",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:54:26.330766+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn4a has been classified as Green List (High Evidence).",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:54:21.905567+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN4A were set to ",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:54:08.193203+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 23801527, 28779239, 32978841; Phenotypes: SCN4A-related muscle disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:34:02.171991+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Rhabdomyolysis RMH to Rhabdomyolysis\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-10-08T09:30:33.490929+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACAD9 as ready",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:30:33.483545+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acad9 has been classified as Green List (High Evidence).",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-10-08T09:30:30.994662+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACAD9 were set to ",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:58:29.828340+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACADVL as ready",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:58:29.819629+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acadvl has been classified as Green List (High Evidence).",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:58:27.575937+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACADVL were set to ",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:49.679848+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOA as ready",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:49.668813+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldoa has been classified as Green List (High Evidence).",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:46.937151+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDOA were set to ",
"entity_name": "ALDOA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:04.348522+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENO3 as ready",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:04.341166+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eno3 has been classified as Green List (High Evidence).",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:57:02.303172+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENO3 were changed from ?Glycogen storage disease XIII 612932 to Glycogen storage disease XIII 612932",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:56:56.114618+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENO3 were set to ",
"entity_name": "ENO3",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:56:14.069137+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:56:14.054826+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:56:11.572529+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFA were set to ",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:56.540786+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:56.529015+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:54.261562+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFDH were set to ",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:21.553323+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYG1 as ready",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:21.535655+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Green List (High Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:51:19.075553+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYG1 were set to ",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:47:28.510742+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYS1 as ready",
"entity_name": "GYS1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:47:28.498505+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys1 has been classified as Green List (High Evidence).",
"entity_name": "GYS1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:47:25.493394+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYS1 were set to ",
"entity_name": "GYS1",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:46:34.862734+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:46:34.847632+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:46:31.459382+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TANGO2 were set to ",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:40:22.529729+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene-disease association is supported both by case-level data (>10 families reported) and functional data.; to: Gene-disease association is supported both by case-level data (>10 families reported) and functional data. Severe prenatal presentation common.",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:39:56.039142+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:39:56.027970+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:39:52.714400+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:39:30.720385+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:39:03.144059+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:38:35.146849+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330, Beemer-Langer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:36:44.628988+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:36:44.621021+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:36:41.679389+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:36:12.980445+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:35:45.506066+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:35:17.749181+11:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 29037998, 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330, Beemer-Langer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:34:11.835264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to 26792575; 28370949; 29037998",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:33:48.426176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT122: Changed publications: 29037998, 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:32:36.878665+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT122 as ready",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:32:36.867616+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift122 has been classified as Green List (High Evidence).",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:32:34.167688+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT122 were changed from to Cranioectodermal dysplasia 1, MIM# 218330; Beemer-Langer syndrome",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:32:04.157413+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT122 were set to ",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:31:35.652749+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:31:05.695631+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 20493458, 23826986, 26792575, 29220510, 28370949, 27681595, 27681595; Phenotypes: Cranioectodermal dysplasia 1, MIM# 218330, Beemer-Langer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:20:59.419950+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEK9 as ready",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:20:59.412083+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:20:39.682719+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Amber List (moderate evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:20:39.667845+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:20:11.830779+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK9 was added\ngene: NEK9 was added to Arthrogryposis. Sources: Expert Review\nMode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK9 were set to 26908619; 21271645\nPhenotypes for gene: NEK9 were set to Lethal congenital contracture syndrome 10, MIM# 617022; Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262\nReview for gene: NEK9 was set to AMBER\nAdded comment: PMID 26908619: Two Irish traveller families, 5 affected individuals, same homozygous variant identified (founder effect). Limited functional data.\r\n\r\nPMID 21271645: Another Saudi family described with which 2 sisters and a female cousin who had a similar disorder characterised by arthrogryposis apparent since early childhood, avascular necrosis of the hip (Perthes disease), and upward gaze palsy. Homozygous missense variant segregated with the phenotype. Given the small number of reports, it is unclear whether this represents a distinct association is part of a spectrum with includes the more severe phenotype described in the Irish traveller families. \nSources: Expert Review",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:15:57.835895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10, MIM# 617022; Skeletal dysplasia to Lethal congenital contracture syndrome 10, MIM# 617022; Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262; Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:15:33.135824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEK9 were set to 26908619",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:14:27.167598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NEK9 as Amber List (moderate evidence)",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:14:27.152976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nek9 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:14:03.467413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Changed rating: AMBER",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T07:13:54.810496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NEK9: Added comment: Another Saudi family described with which 2 sisters and a female cousin who had a similar disorder characterised by arthrogryposis apparent since early childhood, avascular necrosis of the hip (Perthes disease), and upward gaze palsy. Homozygous missense variant segregated with the phenotype. Given the small number of reports, it is unclear whether this represents a distinct association is part of a spectrum with includes the more severe phenotype described in the Irish traveller families.; Changed publications: 26908619, 21271645; Changed phenotypes: Lethal congenital contracture syndrome 10, MIM# 617022, Arthrogryposis, Perthes disease, and upward gaze palsy, MIM# 614262, Skeletal dysplasia",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2020-10-08T02:48:30.934958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4829",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2020-10-07T22:15:39.960235+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-07T22:15:39.952543+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-07T22:15:35.384618+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-07T22:15:35.376530+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-07T22:15:23.395743+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Literature",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:59:01.072706+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:59:01.064532+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:54:03.627942+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TWNK as ready",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:54:03.619899+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: twnk has been classified as Green List (High Evidence).",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:53:34.672496+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFB as ready",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:53:34.661825+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfb has been classified as Amber List (Moderate Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:53:31.978385+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFB were set to ",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:52:58.998841+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHCY as ready",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:52:58.991497+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Red List (Low Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:52:27.307924+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:52:27.299315+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Red List (Low Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:53.820887+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:53.812200+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:33.573976+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:33.566401+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Red List (Low Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:08.299252+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNA2 as ready",
"entity_name": "DNA2",
"entity_type": "gene"
},
{
"created": "2020-10-07T21:51:08.281959+11:00",
"panel_name": "Rhabdomyolysis RMH",
"panel_id": 3084,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dna2 has been classified as Red List (Low Evidence).",
"entity_name": "DNA2",
"entity_type": "gene"
}
]
}