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{
"created": "2023-11-02T17:06:59.770212+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Schimke immunoosseous dysplasia, 242900 (3) for gene: SMARCAL1",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:58.401769+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lysinuric protein intolerance, 222700 (3) for gene: SLC7A7",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:57.389749+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebral creatine deficiency syndrome 1, 300352 (3) for gene: SLC6A8",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:56.018488+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperekplexia 3, 614618 (3) for gene: SLC6A5",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:54.595635+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Brown-Vialetto-Van Laere syndrome 1, 211530 (3) for gene: SLC52A3",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:53.373122+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Brown-Vialetto-Van Laere syndrome 2, 614707 (3) for gene: SLC52A2",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:52.385332+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Folate malabsorption, hereditary, 229050 (3) for gene: SLC46A1",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:50.986746+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Albinism, oculocutaneous, type IV, 606574 (3) for gene: SLC45A2",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:49.581979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Acrodermatitis enteropathica, 201100 (3) for gene: SLC39A4",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:48.599122+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) for gene: SLC38A8",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:47.190268+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glycogen storage disease Ib, 232220 (3) for gene: SLC37A4",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:45.869148+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Arthrogryposis, mental retardation, and seizures (MIM615553) for gene: SLC35A3\nPublications for gene SLC35A3 were updated from 24031089; 28777481; 28328131 to 28777481; 28328131; 24031089",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:44.483893+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Diarrhea 1, secretory chloride, congenital, 214700 (3) for gene: SLC26A3",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:43.518092+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Achondrogenesis Ib, 600972 (3) for gene: SLC26A2",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:42.173102+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) for gene: SLC25A15",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:40.894279+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Citrullinemia, type II, neonatal-onset, 605814 (3) for gene: SLC25A13",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:39.998033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) for gene: SLC25A1",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:38.707814+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Carnitine deficiency, systemic primary, 212140 (3) for gene: SLC22A5",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:37.283016+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) for gene: SLC1A4",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:35.876231+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) for gene: SLC19A3",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:34.894234+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) for gene: SLC19A2",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:33.582642+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sialic acid storage disorder, infantile, 269920 (3) for gene: SLC17A5",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:32.290376+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Allan-Herndon-Dudley syndrome for gene: SLC16A2",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:31.384497+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) for gene: SLC12A6",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:30.095602+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 1, 601678 (3) for gene: SLC12A1",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:28.783629+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Trichohepatoenteric syndrome 2, 614602 (3) for gene: SKIV2L",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:27.395294+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, type 4C, 601596 (3) for gene: SH3TC2",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:26.570248+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3) for gene: SGSH",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:25.288314+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, limb-girdle, type 2C, 253700 (3) for gene: SGCG",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:24.083109+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, limb-girdle, type 2F, 601287 (3) for gene: SGCD",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:22.808846+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, limb-girdle, type 2E, 604286 (3) for gene: SGCB",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:21.876190+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, limb-girdle, type 2D, 608099 (3) for gene: SGCA",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:20.614577+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Orofaciodigital syndrome VI, 277170 (3) for gene: SERPINH1",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:19.220071+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) for gene: SERAC1",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:18.291799+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pontocerebellar hypoplasia type 2D, 613811 (3) for gene: SEPSECS",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:17.071333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dyserythropoietic anemia, congenital, type II, 224100 (3) for gene: SEC23B",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:15.771883+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 16, 615993 (3) for gene: SDCCAG8",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:14.409050+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) for gene: SCO2",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:13.475001+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lathosterolosis, 607330 (3) for gene: SC5D",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:12.175985+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 5, 612952 (3) for gene: SAMHD1",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:10.874816+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 (3) for gene: SACS",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:09.889123+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Central core disease, MIM# 117000 for gene: RYR1",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:08.602561+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dyskeratosis congenita, autosomal recessive 5, 615190 (3) for gene: RTEL1",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:07.287754+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Coffin-Lowry syndrome for gene: RPS6KA3",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:05.886528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Meckel syndrome 5, 611561 (3) for gene: RPGRIP1L",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:04.889207+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 2, 204100 (3) for gene: RPE65",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:03.133392+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Retinitis pigmentosa 2, 312600 (3) for gene: RP2",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:01.202095+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 3, 610329 (3) for gene: RNASEH2C",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:06:00.071452+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 2, 610181 (3) for gene: RNASEH2B",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:58.672757+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aicardi-Goutieres syndrome 4, 610333 (3) for gene: RNASEH2A",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:57.423288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cartilage-hair hypoplasia, 250250 (3) for gene: RMRP",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:56.003263+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 11, 614922 (3) for gene: RMND1",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:54.892846+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 13, 612712 (3) for gene: RDH12",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:53.674829+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Seckel syndrome 2, 606744 (3) for gene: RBBP8",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:52.389838+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microphthalmia, isolated 3, 611038 (3) for gene: RAX",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:51.090370+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pontocerebellar hypoplasia, type 6, 611523 (3) for gene: RARS2",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:49.987596+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fetal akinesia deformation sequence, 208150 (3) for gene: RAPSN",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:48.670609+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, B cell-negative, 601457 (3) for gene: RAG2\nPublications for gene RAG2 were updated from 26996199; 30046960 to 30046960; 26996199",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:47.364390+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, B cell-negative, 601457 (3) for gene: RAG1",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:46.373364+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Warburg micro syndrome 2, 614225 (3) for gene: RAB3GAP2",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:44.874070+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Warburg micro syndrome 1, 600118 (3) for gene: RAB3GAP1",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:43.568993+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Carpenter syndrome, 201000 (3) for gene: RAB23",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:42.275209+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Warburg micro syndrome 3, 614222 (3) for gene: RAB18",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:41.296424+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) for gene: QDPR",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:40.063995+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) for gene: PUS1",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:38.603964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) for gene: PTS",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:37.586548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) for gene: PSAP",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:36.265533+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Arts syndrome, 301835 (3) for gene: PRPS1",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:34.887776+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, 2, 262600 (3) for gene: PROP1",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:33.667697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) for gene: PRF1",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:32.690342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Brittle cornea syndrome 2, 614170 (3) for gene: PRDM5",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:31.374954+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Renpenning syndrome, 309500 (3) for gene: PQBP1",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:30.005606+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 (3) for gene: PPT1",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:29.096931+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, 1, 613038 (3) for gene: POU1F1",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:27.781464+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) for gene: POR",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:26.507823+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, 2, 613150 (3) for gene: POMT2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:25.133639+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, 1, 236670 (3) for gene: POMT1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:24.097597+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, 3, 253280 (3) for gene: POMGNT1",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:22.804738+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) for gene: POLR3B",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:21.497435+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Treacher Collins syndrome 3, 248390 (3) for gene: POLR1C",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:20.265978+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) for gene: POLG",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:19.288564+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) for gene: PNPO",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:17.781176+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly, seizures, and developmental delay, 613402 (3) for gene: PNKP",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:16.410039+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type Ia, 212065 (3) for gene: PMM2",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:15.409457+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive for gene: PLPBP",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:13.994012+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pelizaeus-Merzbacher disease, 312080 (3) for gene: PLP1",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:12.664481+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ehlers-Danlos syndrome, type VI, 225400 (3) for gene: PLOD1",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:11.376816+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600 for gene: PLA2G6",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:10.402558+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Polycystic kidney and hepatic disease, 263200 (3) for gene: PKHD1",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:09.067941+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 3 for gene: PIGT",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:07.674516+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3) for gene: PIGN",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:06.611473+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, autosomal recessive 53, 616917 (3) for gene: PIGG",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:05.295690+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 33 (MIM#617767) for gene: PIBF1\nPublications for gene PIBF1 were updated from 26167768; 30858804; 29695797; 33004012 to 29695797; 33004012; 30858804; 26167768",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:03.995151+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Refsum disease, 266500 (3) for gene: PHYH",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:02.699341+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neu-Laxova syndrome1, 256520 (3) for gene: PHGDH",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:01.621103+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 syndrome, X-linked, Siderius type, 300263 (3) for gene: PHF8",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:05:00.129255+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency 23, 615816 (3) for gene: PGM3",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:58.793590+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type It, 614921 (3) for gene: PGM1",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:57.818156+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Phosphoglycerate kinase 1 deficiency, 300653 (3) for gene: PGK1\nPublications for gene PGK1 were updated from 16567715; 30887539; 22348148; 28580215 to 22348148; 16567715; 28580215; 30887539",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:56.572125+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) for gene: PGAP2",
"entity_name": "PGAP2",
"entity_type": "gene"
}
]
}