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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=806",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=804",
"results": [
{
"created": "2022-06-22T12:53:28.105460+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:52:24.007912+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM4 as ready",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:52:23.996827+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm4 has been classified as Red List (Low Evidence).",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:52:17.261085+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCM4 were changed from Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) to Immunodeficiency 54, MIM# 609981",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:52:04.684023+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCM4 were set to ",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:51:52.510298+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM4 as Red List (low evidence)",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:51:52.502233+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm4 has been classified as Red List (Low Evidence).",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:51:41.349168+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:50:47.577298+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHB as ready",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:50:47.568436+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:50:38.561610+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDHB as Red List (low evidence)",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:50:38.548972+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Red List (Low Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:52.532813+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGFBP7 as ready",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:52.521292+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igfbp7 has been classified as Red List (Low Evidence).",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:48.944435+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGFBP7 were changed from Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:34.113327+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGFBP7 were set to ",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:22.152657+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IGFBP7 as Red List (low evidence)",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:22.144653+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: igfbp7 has been classified as Red List (Low Evidence).",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:49:09.220417+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:44:01.965326+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMG1 as ready",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:44:01.872590+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emg1 has been classified as Red List (Low Evidence).",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:43:49.364881+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EMG1 were set to ",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:43:36.019386+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMG1 as Red List (low evidence)",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:43:35.997333+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emg1 has been classified as Red List (Low Evidence).",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:43:25.589827+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:49.958570+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSTYK as ready",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:49.948518+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Red List (Low Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:46.542836+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 (3), Autosomal recessive to Spastic paraplegia 23, MIM# 270750",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:33.905453+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSTYK were set to ",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:23.104825+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSTYK as Red List (low evidence)",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:23.091950+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dstyk has been classified as Red List (Low Evidence).",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:42:10.976162+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:40:55.808283+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:40:55.799127+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:40:51.018196+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:40:38.732325+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG2 were set to ",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:39:53.745028+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG2 as Red List (low evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:39:53.736482+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:39:42.234644+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:38:39.367704+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIBF1 as ready",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:38:39.349976+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:38:26.405002+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PIBF1 as Green List (high evidence)",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:38:26.391681+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pibf1 has been classified as Green List (High Evidence).",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-06-22T12:38:15.719553+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 33 (MIM#617767); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:58:32.104654+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:58:08.420561+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.207",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: APOL1 was changed from to Other",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:56:19.573352+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.206",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APOL1 were set to 20647424; 24206458; 20635188",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:55:36.685076+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: APOL1 as Amber List (moderate evidence)",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:55:36.681425+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Assigning amber status, because this is a susceptibility allele",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:55:36.663941+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.205",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: apol1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-20T17:53:17.711983+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.204",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: APOL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20647424, 25993319, 34350953; Phenotypes: focal segmental glomerulosclerosis 4, susceptibility to MONDO:0012931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "APOL1",
"entity_type": "gene"
},
{
"created": "2022-06-19T18:01:42.491179+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T18:01:22.418127+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase 301083",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T18:00:23.457516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:59:59.780949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:59:52.752040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Added comment: Variants in GATA1 are associated with a number of haematological disorders, which probably represent a spectrum rather than distinct entities.; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:58:37.268669+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-19T17:57:49.313896+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Haemolytic anemia due to elevated adenosine deaminase 301083",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:18:53.652134+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from Intellectual Disability; Dystonia and Early-onset Parkinson to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:18:27.614729+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Behavioral abnormality, Abnormality of movement, Joint hypermobility to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:17:42.647285+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR4A2: Changed phenotypes: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:17:27.984328+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from Intellectual Disability; Dystonia and Early-onset Parkinson to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:16:43.659112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from Intellectual disability; epilepsy to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:16:25.631882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NR4A2: Changed phenotypes: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-18T18:15:59.688378+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR4A2 were changed from Intellectual disability; rolandic epilepsy; autism to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM#\t619911",
"entity_name": "NR4A2",
"entity_type": "gene"
},
{
"created": "2022-06-17T12:10:22.438348+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.73",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:09:46.718683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNC2 as ready",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:09:46.704981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Green List (High Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:09:41.353672+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC2 as Green List (high evidence)",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:09:41.345978+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Green List (High Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:09:12.420167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNC2 was added\ngene: KCNC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC2 were set to 32392612; 31972370; 35314505\nPhenotypes for gene: KCNC2 were set to Developmental and epileptic encephalopathy 103, MIM# 619913\nReview for gene: KCNC2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. ID ranges from mild to severe. \nSources: Expert Review",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:08:27.014526+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNC2 were changed from Developmental and epileptic encephalopathy 103, MIM# 619913 to Developmental and epileptic encephalopathy 103, MIM# 619913",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:07:35.510844+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNC2 were changed from epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome to Developmental and epileptic encephalopathy 103, MIM# 619913",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:06:55.792202+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNC2 were set to PMID:32392612; 31972370",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:06:20.515536+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC2 as Green List (high evidence)",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:06:20.506047+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Green List (High Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:05:49.731655+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314505; Phenotypes: Developmental and epileptic encephalopathy 103, MIM# 619913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:05:07.075874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNC2 were changed from epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome to Developmental and epileptic encephalopathy 103, MIM# 619913",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:04:45.857901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNC2 were set to 32392612; 31972370",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:03:58.047560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC2 as Green List (high evidence)",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:03:58.028469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Green List (High Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T11:03:38.676435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314505; Phenotypes: Developmental and epileptic encephalopathy 103, MIM# 619913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2022-06-17T07:19:15.564940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ1 were set to 28630040",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-06-17T07:18:50.523038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841184, 19096086, 7635463, 12086641, 9580661, 12122007; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:11:04.988355+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:11:04.976162+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:11:01.579156+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to} to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:10:44.805569+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:10:26.282004+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:10:09.326614+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:10:09.317906+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:09:53.416357+10:00",
"panel_name": "Cerebral vascular malformations",
"panel_id": 3144,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773, Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:06:37.410991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:06:06.092267+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:05:45.535842+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:05:11.920936+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:04:40.872333+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-16T07:04:19.460273+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP2B1",
"entity_type": "gene"
},
{
"created": "2022-06-15T22:29:53.716876+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM13 were changed from Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2022-06-15T22:29:01.771648+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRDM13: Added comment: Note only single family reported with MIM#619761. The two disorders likely represent a continuum of severity.; Changed phenotypes: Pontocerebellar hypoplasia, type 17, MIM# 619909, Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761",
"entity_name": "PRDM13",
"entity_type": "gene"
}
]
}