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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=697",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=695",
"results": [
{
"created": "2022-11-11T10:42:49.020061+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: matn3 has been classified as Green List (High Evidence).",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:42:10.582791+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LTBP3 as ready",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:42:10.574169+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Green List (High Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:42:04.984904+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LTBP3 as Green List (high evidence)",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:42:04.975766+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ltbp3 has been classified as Green List (High Evidence).",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:41:24.440277+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LONP1 as ready",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:41:24.430150+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lonp1 has been classified as Green List (High Evidence).",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:41:19.738155+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LONP1 as Green List (high evidence)",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:41:19.729383+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lonp1 has been classified as Green List (High Evidence).",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:40:40.458962+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSC as ready",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:40:40.443915+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:40:35.902749+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSC as Green List (high evidence)",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:40:35.893613+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:52.160660+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPX4 as ready",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:52.152516+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx4 has been classified as Green List (High Evidence).",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:48.479988+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPX4 as Green List (high evidence)",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:48.471608+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx4 has been classified as Green List (High Evidence).",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:10.241871+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPC6 as ready",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:10.228372+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc6 has been classified as Green List (High Evidence).",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:05.631999+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPC6 as Green List (high evidence)",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-11-11T10:39:05.619996+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpc6 has been classified as Green List (High Evidence).",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2022-11-10T13:16:10.025447+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MEOX1 was added\ngene: MEOX1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: MEOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MEOX1 were set to 24073994; 23290072\nPhenotypes for gene: MEOX1 were set to Klippel-Feil syndrome 2, OMIM:214300; Klippel-Feil syndrome 2, autosomal recessive, MONDO:0008958\nReview for gene: MEOX1 was set to GREEN\nAdded comment: Review from fetal anomalies panel:\r\n\r\nKlippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. 3 families with multiple affected individuals and homozygous variants segregating fully with the disease. meox1cho mutant zebrafish show vertebral fusion, congenital scoliosis and asymmetry of pectoral girdle, which resembles Sprengel's deformity. \nSources: Literature",
"entity_name": "MEOX1",
"entity_type": "gene"
},
{
"created": "2022-11-10T13:02:13.919655+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.76",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: MBTPS1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392; Mode of inheritance: None",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2022-11-10T13:02:09.241715+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MBTPS1 was added\ngene: MBTPS1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MBTPS1 were set to 32857899; 32420688; 30046013\nPhenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type - MIM#618392\nReview for gene: MBTPS1 was set to GREEN\nAdded comment: Review from fetal anomalies panel: Three unrelated individuals reported with bi-allelic variants in this gene and a skeletal dysplasia, one described with SRS-like features. Elevated blood lysosomal enzymes are also a feature. \nSources: Literature",
"entity_name": "MBTPS1",
"entity_type": "gene"
},
{
"created": "2022-11-10T12:54:48.024282+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MATN3 was added\ngene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835\nPhenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728\nReview for gene: MATN3 was set to GREEN\nAdded comment: Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype. \nSources: Literature",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2022-11-10T12:41:47.437038+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LTBP3 was added\ngene: LTBP3 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: LTBP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LTBP3 were set to PMID: 27068007\nPhenotypes for gene: LTBP3 were set to Geleophysic dysplasia 3\t- MIM#617809\nReview for gene: LTBP3 was set to GREEN\nAdded comment: Antenatal findings of disproportionately restricted length and shortened long bones described. \nSources: Literature",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-11-10T11:25:26.638912+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LONP1 were set to PMID: 25574826\nPhenotypes for gene: LONP1 were set to CODAS syndrome - MIM#600373\nReview for gene: LONP1 was set to GREEN\nAdded comment: Prenatal identification of shortened long bones reported. \nSources: Literature",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:41:06.092413+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBR1 as ready",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:41:06.081636+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:40:55.416621+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBR1 as Green List (high evidence)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:40:55.408268+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ubr1 has been classified as Green List (High Evidence).",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:40:45.929241+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR1 was added\ngene: UBR1 was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, MIM#\t243800\nReview for gene: UBR1 was set to GREEN\nAdded comment: Well established gene-disease association. Short stature and growth failure are major features of the condition. \nSources: Expert Review",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:39:25.093884+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:39:25.084736+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:39:20.893005+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SBDS as Green List (high evidence)",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:39:20.883530+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-11-10T10:39:11.621773+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Growth failure. Sources: Expert Review\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome 1, MIM#\t260400\nReview for gene: SBDS was set to GREEN\nAdded comment: Well established gene-disease association. Short stature and growth failure are major features of the condition. \nSources: Expert Review",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2022-11-10T09:02:32.196504+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2022-11-10T09:01:44.941879+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2022-11-10T09:00:30.481675+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1I were changed from Neurodevelopmental disorder to Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2022-11-10T08:59:56.017542+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1I: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with variable intellectual disability and speech impairment, with or without seizures (NEDISS), MIM#620114; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1I",
"entity_type": "gene"
},
{
"created": "2022-11-10T04:30:05.399391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.459",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: RPS6KB1 was added\ngene: RPS6KB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RPS6KB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RPS6KB1 were set to 34916228\nPhenotypes for gene: RPS6KB1 were set to Hypertrophic cardiomyopathy\nReview for gene: RPS6KB1 was set to GREEN\nAdded comment: Jain et al. 2022 (PMID: 34916228) reported on two unrelated HCM families with the same heterozygous missense RPS6KB1 variant (p.G47W), and subsequently three further unrelated probands with HCM harbouring distinct heterozygous variants (p.Q49K, p.Y62H, respectively). Variants segregated with disease, were predicted pathogenic by silico analyses and were ultrarare or absent in population databases. Functional studies in the HL-1 (mouse cardiomyocytes) cells showed that the patient-specific RPS6KB1 mutant significantly increased cell size and activated rpS6 and ERK1/2 signalling cascades. The relationship between RPS6KB1 and cardiac hypertrophy has also been explored in feline and mice models (PMID: 15226426; 17976640) \nSources: Literature",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:02:31.374754+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHCR7 as ready",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:02:31.365418+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:02:03.635063+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHCR7 as Green List (high evidence)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:02:03.624848+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhcr7 has been classified as Green List (High Evidence).",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:01:20.238623+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HHAT as ready",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:01:20.228150+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:01:05.865114+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HHAT as Green List (high evidence)",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:01:05.857253+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hhat has been classified as Green List (High Evidence).",
"entity_name": "HHAT",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:00:10.737818+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IHH as ready",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:00:10.728439+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ihh has been classified as Green List (High Evidence).",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:00:04.999126+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IHH as Green List (high evidence)",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2022-11-09T21:00:04.988544+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ihh has been classified as Green List (High Evidence).",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:55:27.522425+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0753 as ready",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:55:27.512100+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0753 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:55:21.858816+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIAA0753 as Green List (high evidence)",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:55:21.851111+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0753 has been classified as Green List (High Evidence).",
"entity_name": "KIAA0753",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:54:18.214863+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF5B as ready",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:54:18.199983+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5b has been classified as Green List (High Evidence).",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:53:54.794081+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF5B as Green List (high evidence)",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:53:54.785654+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5b has been classified as Green List (High Evidence).",
"entity_name": "KIF5B",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:48:39.638680+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:48:27.714689+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: HK1.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:48:03.703972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HK1: Added comment: PMID 36333503: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.; Changed publications: 19536174, 30778173, 25316723, 25190649, 31621442, 32814480, 7655856, 12393545, 33361148, 31119733, 27282571, 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related, Neuropathy, hereditary motor and sensory, Russe type , MIM#605285, Haemolytic anaemia due to hexokinase deficiency, MIM# 235700, Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547, Retinitis pigmentosa 79, MIM# 617460",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:46:16.344606+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Hyperinsulinaemia to Hyperinsulinism MONDO:0002177, HK1-related",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:45:51.390148+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to 23859901",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:44:44.677200+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HK1 as Green List (high evidence)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:44:44.666226+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:44:12.103361+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; to: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified in individuals with hyperinsulinism.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T20:43:57.820418+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HK1: Added comment: 14 non-coding de novo variants affecting a 42-bp conserved region encompassed by a regulatory element in intron 2 of the hexokinase 1 gene (HK1) identified.; Changed publications: 36333503; Changed phenotypes: Hyperinsulinism MONDO:0002177, HK1-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:32:29.055362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PALB2.",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:31:25.936910+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical trial due to start in VIC. Age at entry is 2 years and older.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.\r\n\r\nKeep on Amber list.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:31:10.140762+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Clinical trial due to start in VIC.; to: Clinical trial due to start in VIC. Age at entry is 2 years and older.",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:30:32.554779+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN8A as Red List (low evidence)",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:30:32.542095+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Red List (Low Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:30:23.039408+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SCN8A.",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:30:15.224979+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 13, MIM#614558; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:27:57.554302+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: NPC2.",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-11-09T18:26:50.486993+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: MYO6.",
"entity_name": "MYO6",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:58:40.184277+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: PAX6.",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:57:32.548703+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: SLC12A3.",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:56:38.957973+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: NBN.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:51:47.223671+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: TYR.",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:51:33.054728+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Treatment is supportive.\r\n\r\nFor review.; to: Diagnosis is clinical. Treatment is supportive.\r\n",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:50:14.669079+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: APC as Amber List (moderate evidence)",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:50:14.658652+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc has been classified as Amber List (Moderate Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:50:00.937723+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: APC.",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:47:59.543209+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA2 as Green List (high evidence)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:47:59.534250+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:47:48.981447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag pharmacogenomic tag was added to gene: LAMA2.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:47:38.164752+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAMA2: Changed rating: GREEN",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:47:27.908591+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No specific treatment.; to: No specific treatment.\r\nSuccinylcholine in induction of anaesthesia because of risk of hyperkalaemia and cardiac conduction abnormalities; statins, cholesterol-lowering medications, because of the risk of muscle damage.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:45:44.049462+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: LAMA2.",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:43:29.134531+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: DGUOK.",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:43:21.291479+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association.\r\n\r\nVariable age of onset ranging from severe neonatal presentations to adult.\r\n\r\nSee comments below about treatment: emerging approaches.\r\n\r\nFor review.; to: Well established gene disease association.\r\n\r\nVariable age of onset ranging from severe neonatal presentations to adult.\r\n\r\nSee comments below about treatment: emerging approaches. May not be eligible for liver transplant due to multi-system involvement.\r\n\r\nFor review.",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:41:09.193309+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ALAS2.",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:40:25.018475+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDB2 as ready",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:40:24.994705+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddb2 has been classified as Red List (Low Evidence).",
"entity_name": "DDB2",
"entity_type": "gene"
},
{
"created": "2022-11-09T17:40:22.448343+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACVRL1 were set to ",
"entity_name": "ACVRL1",
"entity_type": "gene"
}
]
}