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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=529",
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"results": [
{
"created": "2023-11-02T17:02:53.571277+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bardet-Biedl syndrome 17, 615994 (3) for gene: LZTFL1",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:52.200997+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chediak-Higashi syndrome, 214500 (3) for gene: LYST",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:51.175064+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leigh syndrome, French-Canadian type, 220111 (3) for gene: LRPPRC",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:49.816251+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Donnai-Barrow syndrome, 222448 (3) for gene: LRP2",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:48.487832+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leber congenital amaurosis 14, 613341 (3) for gene: LRAT",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:47.186390+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lipoprotein lipase deficiency, 238600 (3) for gene: LPL",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:46.363283+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Restrictive dermopathy, lethal, 275210 (3) for gene: LMNA\nPublications for gene LMNA were updated from 18551513; 15148145; 17377071 to 15148145; 18551513; 17377071",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:44.963300+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) for gene: LMBRD1",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:43.669637+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cholesteryl ester storage disease, 278000 (3) for gene: LIPA",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:42.707333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes LIG4 syndrome, 606593 (3) for gene: LIG4",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:41.303600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3) for gene: LIFR",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:39.998864+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pituitary hormone deficiency, combined, 3, 221750 (3) for gene: LHX3",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:38.706290+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypercholesterolemia, familial, autosomal recessive, 603813 (3) for gene: LDLRAP1",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:37.688376+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes LDL cholesterol level QTL2/Hypercholesterolemia, familial for gene: LDLR",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:36.385644+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leber congenital amaurosis 5, 604537 (3) for gene: LCA5",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:35.090970+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Infantile liver failure syndrome 1, MIM# 615438 for gene: LARS",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:34.168210+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) for gene: LARGE1",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:32.888165+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMC2",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:31.672207+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMB3",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:30.395267+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pierson syndrome, 609049 (3) for gene: LAMB2",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:29.465791+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly 5, 615191 (3) for gene: LAMB1",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:28.265260+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, Herlitz type, 226700 (3) for gene: LAMA3",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:26.986375+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Muscular dystrophy, congenital merosin-deficient, 607855 (3) for gene: LAMA2",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:26.072598+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes L-2-hydroxyglutaric aciduria, 236792 (3) for gene: L2HGDH",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:24.871904+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes MASA syndrome, 303350 (3) for gene: L1CAM",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:23.566781+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa simplex, recessive 1, 601001 (3) for gene: KRT14",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:22.268965+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hydrolethalus syndrome 2, 614120 (3) for gene: KIF7",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:21.272558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 (3) for gene: KIF1A",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:19.963338+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3) for gene: KDM5C",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:18.593927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Jervell and Lange-Nielsen syndrome, 220400 (3) for gene: KCNQ1\nPublications for gene KCNQ1 were updated from 29033053; 28438721 to 29033053; 28438721",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:17.276015+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3) for gene: KCNJ11",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:16.321657+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bartter syndrome, type 2, 241200 (3) for gene: KCNJ1",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:14.768470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly 6, with microcephaly, 616212 (3) for gene: KATNB1",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:13.375711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes SCID, autosomal recessive, T-negative/B-positive type, 600802 (3) for gene: JAK3",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:12.402941+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Isovaleric acidemia, 243500 (3) for gene: IVD",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:11.132040+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Gillespie syndrome, 206700 (3), Autosomal recessive for gene: ITPR1",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:09.867855+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) for gene: ITGB4",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:08.568885+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) for gene: ITGA6\nPublications for gene ITGA6 were updated from 31502654; 27607025; 9158140; 34525201; 20301336 to 9158140; 20301336; 27607025; 34525201; 31502654",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:07.393610+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, X-linked 1, 309530 (3) for gene: IQSEC2",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:06.076908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Nephronophthisis 2, infantile, 602088 (3) for gene: INVS",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:04.792811+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Joubert syndrome 1, 213300 (3) for gene: INPP5E",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:03.796603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3) for gene: IL7R",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:02.573149+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Severe combined immunodeficiency, X-linked, 300400 (3) for gene: IL2RG",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:00.895020+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, X-linked 21/34, 300143 (3) for gene: IL1RAPL1",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:59.289997+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency 15, 615592 (3) for gene: IKBKB",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:58.408224+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neuronopathy, distal hereditary motor, type VI, 604320 (3) for gene: IGHMBP2",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:57.104329+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis Ih, 607014 (3) for gene: IDUA",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:55.878966+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis II, 309900 (3) for gene: IDS",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:54.783845+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hydrolethalus syndrome, 236680 (3) for gene: HYLS1",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:53.486571+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, X-linked syndromic, Turner type, 300706 (3) for gene: HUWE1",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:52.190449+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3) for gene: HSD3B2",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:50.820238+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes D-bifunctional protein deficiency, 261515 (3) for gene: HSD17B4",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:49.786541+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes HSD10 mitochondrial disease for gene: HSD17B10",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:48.488490+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 6, 614075 (3) for gene: HPS6",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:47.195973+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 5, 614074 (3) for gene: HPS5",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:45.867125+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 4, 614073 (3) for gene: HPS4",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:44.801710+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 3, 614072 (3) for gene: HPS3",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:43.504294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 1, 203300 (3) for gene: HPS1",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:42.183058+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lesch-Nyhan syndrome, 300322 (3) for gene: HPRT1",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:41.266325+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Tyrosinemia, type III, 276710 (3) for gene: HPD",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:39.936512+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes HMG-CoA synthase-2 deficiency, 605911 (3) for gene: HMGCS2",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:38.673548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes HMG-CoA lyase deficiency, 246450 (3) for gene: HMGCL",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:37.364529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Holocarboxylase synthetase deficiency, 253270 (3) for gene: HLCS",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:36.402452+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3) for gene: HIBCH",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:35.093910+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) for gene: HGSNAT",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:33.766364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hemochromatosis, type 2A, 602390 (3) for gene: HFE2",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:32.789287+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) for gene: HEXB",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:31.497608+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Tay-Sachs disease, 272800 (3) for gene: HEXA",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:30.182503+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) for gene: HCFC1",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:28.875254+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Thalassemias, beta-, 613985 (3) for gene: HBB",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:27.963298+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neutropenia, severe congenital 3, autosomal recessive, 610738 (3) for gene: HAX1",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:26.673746+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hemochromatosis, type 2B, 613313 (3) for gene: HAMP",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:25.363276+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Trifunctional protein deficiency, 609015 (3) for gene: HADHB",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:24.368813+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fatty liver, acute, of pregnancy, 609016 (3) for gene: HADHA",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:22.971733+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) for gene: HADH",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:21.680102+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis VII, 253220 (3) for gene: GUSB",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:20.382481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leber congenital amaurosis 1, 204000 (3) for gene: GUCY2D",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:19.388906+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glutathione synthetase deficiency, 266130 (3) for gene: GSS",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:18.064481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chudley-McCullough syndrome, 604213 (3) for gene: GPSM2",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:16.705688+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ocular albinism, type I, Nettleship-Falls type, 300500 (3) for gene: GPR143",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:15.463300+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870 (3) for gene: GPC3",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:14.501605+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Geroderma osteodysplasticum, 231070 (3) for gene: GORAB",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:13.196686+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis type IIID, 252940 (3) for gene: GNS",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:11.800367+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucolipidosis III gamma, 252605 (3) for gene: GNPTG",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:10.789966+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucolipidosis III alpha/beta, 252600 (3) for gene: GNPTAB",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:09.394619+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3) for gene: GNPAT",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:07.985288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Inclusion body myopathy, autosomal recessive, 600737 (3) for gene: GNE",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:06.571064+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive for gene: GNB5",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:05.585982+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) for gene: GLE1",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:04.289998+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glycine encephalopathy, 605899 (3) for gene: GLDC",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:03.103549+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis type IVB (Morquio), 253010 (3) for gene: GLB1",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:02.095955+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fabry disease, MIM#301500 for gene: GLA",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:01:00.673217+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1\t(MIM#302800) for gene: GJB1",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:59.365648+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Laron dwarfism, 262500 (3) for gene: GHR",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:58.096861+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Combined oxidative phosphorylation deficiency 1, 609060 (3) for gene: GFM1",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:57.111550+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chondrodysplasia, Grebe type, 200700 (3) for gene: GDF5",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:55.865538+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Right atrial isomerism, 208530 (3) for gene: GDF1",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:54.395755+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) for gene: GDAP1",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:53.499117+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) for gene: GCH1",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:52.293645+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glutaricaciduria, type I, 231670 (3) for gene: GCDH",
"entity_name": "GCDH",
"entity_type": "gene"
}
]
}