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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1122",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1120",
"results": [
{
"created": "2021-11-22T16:54:56.240241+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Red List (Low Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:56.451502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.637",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GATA1 were set to 10700180\nPhenotypes for gene: GATA1 were set to Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835\nReview for gene: GATA1 was set to GREEN\nAdded comment: Can present with severe hydrops in utero requiring transfusion. \nSources: Expert list",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:36.338187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA1109 as ready",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:36.327771+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa1109 has been classified as Green List (High Evidence).",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:35.584053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:07.487922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIAA1109 were changed from Brain atrophy, Dandy Walker and Contractures; Alkuraya-Kucinskas syndrome, 617822 to Alkuraya-Kucinskas syndrome MIM#617822",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:07.343097+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD1 as ready",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:53:07.332571+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:52:54.797335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIAA1109 were set to 28749478; 30485398; 29290337",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:52:18.703395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD1 were changed from SCALP-EAR-NIPPLE SYNDROME to Scalp-ear-nipple syndrome MIM#181270",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:52:06.230859+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD1 were set to ",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:51:53.215071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:51:53.205124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:51:52.925341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD1 as Amber List (moderate evidence)",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:51:52.915723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:53.633449+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from to Andersen syndrome MIM#170390; Atrial fibrillation, familial, 9 MIM#613980; Short QT syndrome 3 MIM#609622",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:50.558430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMACHC as ready",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:50.538791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:39.750327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMACHC were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE to Methylmalonic aciduria and homocystinuria, cblC type, (MIM#277400)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:26.722076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNJ2 was changed from to Other",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:50:14.493365+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMACHC were set to ",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:49:28.663395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:49:27.890907+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MID1 as ready",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:49:27.879883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mid1 has been classified as Green List (High Evidence).",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:49:14.510258+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MID1 were changed from to Opitz GBBB syndrome, type I (MIM#300000)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:48:50.691055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MID1 were set to ",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:48:34.710166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ2 as ready",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:48:34.700773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj2 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:48:20.608565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ2 were changed from Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222 to Andersen syndrome, OMIM:170390; Andersen-Tawil syndrome, MONDO:0008222",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:48:05.155181+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ2 were set to ",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:47:50.660947+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNJ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:56.698586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MID1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:29.763990+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MID1 as ready",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:29.740749+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mid1 has been classified as Green List (High Evidence).",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:26.594179+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MLC1 as ready",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:26.563404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mlc1 has been classified as Green List (High Evidence).",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:21.641299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MLC1 were changed from LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS to Megalencephalic leukoencephalopathy with subcortical cysts (MIM#604004)",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:11.415874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MID1 were changed from OPITZ G/BBB SYNDROME, X-LINKED to Opitz GBBB syndrome, type I (MIM#300000)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:46:04.163568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MLC1 were set to ",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:45:08.137432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6B as ready",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:45:08.121038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6b has been classified as Green List (High Evidence).",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:45:06.013166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MID1 were set to ",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:44:25.947392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6B were changed from GENITOPATELLAR SYNDROME; BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE to SBBYSS syndrome MIM#603736; Genitopatellar syndrome MIM#606170",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:44:12.026307+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:44:12.015618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:44:07.167952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6B were set to ",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:44:01.054724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 to Arboleda-Tham syndrome MIM#616268",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:43:51.247687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:43:29.043612+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6A were set to ",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:42:42.486479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:42:42.473018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:42:05.280290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6A were changed from to Arboleda-Tham syndrome MIM#616268",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:56.923638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP2 as ready",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:56.912326+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp2 has been classified as Green List (High Evidence).",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:37.957610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP2 were changed from to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:31.341362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KAT6A were set to ",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:15.019961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MESP2 were set to ",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:41:04.551249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KAT6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:40:51.364362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MESP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:40:30.620887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:39:23.439988+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP2 as ready",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:39:23.430935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp2 has been classified as Green List (High Evidence).",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:39:11.621027+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP2 were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 to Spondylocostal dysostosis 2, autosomal recessive (MIM#608681)",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:38:59.516477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MESP2 were set to ",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:38:36.754431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF365 as ready",
"entity_name": "ZNF365",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:38:36.741996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf365 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF365",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:37:59.583459+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZNF365 as Red List (low evidence)",
"entity_name": "ZNF365",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:37:59.573978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf365 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF365",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:37:02.656426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEGF10 as ready",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:37:02.645107+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: megf10 has been classified as Green List (High Evidence).",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:57.899275+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEGF10 were changed from MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset (MIM#614399)",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:43.993137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MEGF10 were set to ",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:36:30.278242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:35:09.392007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:35:09.382659+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:35:04.615400+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBTPS2 were changed from IFAP syndrome with or without BRESHECK syndrome 308205; Keratosis follicularis spinulosa decalvans, X-linked 308800 to IFAP syndrome with or without BRESHECK syndrome MIM#308205; Osteogenesis imperfecta, type XIX, MIM#301014",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:33:00.664472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBTPS2 were set to ",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:32:45.386606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ALPK3 was added\ngene: ALPK3 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALPK3 were set to PMID 26846950.\nPhenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27 - #618052\nReview for gene: ALPK3 was set to GREEN\nAdded comment: Severe neonatal presentation of cardiomyopathy with bi-allelic variants, including antenatal onset with hydrops in 2/7 reported individuals in PMID 26846950.\r\n\r\nPMID 28630369 reports male infant diagnosed antenatally with cardiomyopathy after birth. Born to a nonconsanguineous family with a past history of a male fetus that died because of cardiac abnormalities at 30 wk of gestation. \nSources: Expert list, Literature",
"entity_name": "ALPK3",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:20:16.111181+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZBTB42 was added\ngene: ZBTB42 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ZBTB42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB42 were set to 25055871\nPhenotypes for gene: ZBTB42 were set to ?Lethal congenital contracture syndrome 6- #616248\nReview for gene: ZBTB42 was set to AMBER\nAdded comment: Homozygous missense variant reported in a family with three stillbirths and a phenotype consistent with LCCS. Supportive zebrafish model. \nSources: Expert list, Literature",
"entity_name": "ZBTB42",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:14:49.078038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: UNC50: Rating: ; Mode of pathogenicity: None; Publications: 29016857, 33820833; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: None",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:11:41.332291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: UNC50 was added\ngene: UNC50 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC50 were set to 29016857; 33820833",
"entity_name": "UNC50",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:08:13.343053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 33215087; 32055997; 24856141; 31299614; 30723199; 27342937\nPhenotypes for gene: TOR1AIP1 were set to ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures - #61707; congenital myasthenic syndrome\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: Gene is associated with multiple muscle phenotypes. Phenotype highly variable. Single family myasthenic syndrome and supportive mouse model data. \nSources: Expert list, Literature",
"entity_name": "TOR1AIP1",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:04:25.553090+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, Renal coloboma syndrome, ventricular septal defect, skeletal deformity, ovarian teratoma, growth retardation, gout, microcephaly, developmental disorder, gonadal abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:01:50.694604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: STIM1 were set to 31448844; 20876309\nPhenotypes for gene: STIM1 were set to Immunodeficiency 10 - #612783; Myopathy, tubular aggregate, 1\t- #160565; Stormorken syndrome - #185070\nReview for gene: STIM1 was set to GREEN\nAdded comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence)\r\n\r\nDominant STIM1 missense variants via a GOF mechanism cause a spectrum of myopathy covering tubular aggregate myopathy/TAM and Stormorken syndrome/STRMK (slowly progressive muscle weakness with variable multisystemic disease including non-specific dysmorphism, a/hyposplenia, ichthyosis, cytopenias)\r\n\r\nRecessive STIM1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) --> presentations can be severe, death from disseminated Kaposi sarcoma in an HIV negative 2 year old F reported.\r\n\r\nHighly variable phenotype - contractures have been reported in the more severely affected individuals. \nSources: Expert list, Literature",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:54:11.085351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: SCYL2 was added\ngene: SCYL2 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCYL2 were set to 31960134; 26203146\nPhenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum - #618766\nReview for gene: SCYL2 was set to AMBER\nAdded comment: 2 unrelated consanguineous families reported with AMC (PMID: 31960134).\r\nConstitutive mouse knockout of Scyl2 results in neonatal lethality and severe motor and sensory deficits (PMID: 26203146). \nSources: Expert list, Literature",
"entity_name": "SCYL2",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:50:51.367800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIP5K1C were set to 17701898\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3 - #611369\nReview for gene: PIP5K1C was set to AMBER\nAdded comment: Two families reported in 2007 with same homozygous variant, no reports since. Borderline Red/Amber. \nSources: Expert list, Literature",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:45:57.409432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ORAI1 was added\ngene: ORAI1 was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ORAI1 were set to 31448844\nPhenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2 - #615883\nReview for gene: ORAI1 was set to GREEN\nAdded comment: PMID 31448844 (comprehensive review, summarises all published cases, references functional evidence):\r\n- Dominant ORAI1 missense variants via a GOF mechanism cause a slowly progressive myopathy (tubular aggregate myopathy/TAM)\r\n- Recessive ORAI1 variants via a LOF mechanism cause a combined immunodeficiency (recurrent and chronic infections, autoimmunity, ectodermal dysplasia, non-progressive myopathy) \nSources: Expert list, Literature",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:43:01.962822+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.612",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: MYLPF was added\ngene: MYLPF was added to Fetal anomalies. Sources: Expert list,Literature\nMode of inheritance for gene: MYLPF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYLPF were set to 32707087\nPhenotypes for gene: MYLPF were set to Distal arthrogryposis type 1C (DA1C), MIM#619110\nReview for gene: MYLPF was set to AMBER\nAdded comment: MYLPF gene variants associated with dominant and recessive distal arthrogryposis\r\n\r\n6 consanguineous families - homozygous for c.470G>T (p.Cys157Phe) or c.469T>C (p.Cys157Arg) variants\r\n\r\n7th family - hetrozygous c.487G>A (p.Gly163Ser) variant\r\n\r\n8th family - hetrozygous c.98C>T (p.Ala33Val) variant \nSources: Expert list, Literature",
"entity_name": "MYLPF",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:36:21.418709+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLF1 as ready",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:36:21.409312+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crlf1 has been classified as Green List (High Evidence).",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:36:18.157155+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:33:26.509995+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRLF1 were set to ",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:33:01.590795+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:31:52.606389+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:30:09.531422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRLF1 as ready",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:30:09.518999+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crlf1 has been classified as Green List (High Evidence).",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:30:01.352854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:29:40.157698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRLF1 were set to ",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:29:14.956314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:28:37.319678+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CRLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12509788, 17436251, 17436252; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRLF1",
"entity_type": "gene"
}
]
}