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"count": 221415,
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"results": [
{
"created": "2023-11-02T19:54:22.375650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: New gene name H4C4",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:54:22.335156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4d has been classified as Amber List (Moderate Evidence).",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:53:47.304561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4D.",
"entity_name": "HIST1H4D",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:53:06.327686+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:52:33.994685+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:52:12.814017+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2023-11-02T19:51:44.894254+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: HIST1H4C.",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:53.994295+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 97, 300803 (3) for gene: ZNF711",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:52.771770+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 15, autosomal recessive, 270700 (3) for gene: ZFYVE26",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:51.878045+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, Raymond type, 300799 (3) for gene: ZDHHC9",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:50.572204+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3) for gene: ZBTB24",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:49.009834+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) for gene: YARS2",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:47.668146+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Xeroderma pigmentosum, group C, 278720 (3) for gene: XPC",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:46.710512+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Xeroderma pigmentosum, group A, 278700 (3) for gene: XPA",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:45.289392+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lymphoproliferative syndrome, X-linked, 2, 300635 (3) for gene: XIAP",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:43.964578+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epileptic encephalopathy, early infantile, 28, 616211 (3) for gene: WWOX",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:43.069653+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Werner syndrome, 277700 (3) for gene: WRN",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:41.785010+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) for gene: WISP3",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:40.510803+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 2D, 611383 (3) for gene: WHRN",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:39.195334+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) for gene: WDR81",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:38.290022+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) for gene: WDR62",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:37.002027+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) for gene: WDR34",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:35.699226+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Wiskott-Aldrich syndrome, 301000 (3) for gene: WAS",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:34.801276+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microphthalmia with coloboma 3, 610092 (3) for gene: VSX2",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:33.484565+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 1A, 607596 (3) for gene: VRK1",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:32.265079+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 2E, 615851 (3) for gene: VPS53",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:30.967724+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, 5, autosomal recessive, 615285 (3) for gene: VPS45",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:30.045076+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cohen syndrome, 216550 (3) for gene: VPS13B",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:28.668189+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, 12, 616683 (3), Autosomal recessive for gene: VPS11",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:27.391090+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) for gene: VLDLR",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:26.073728+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 99, 300919 (3) for gene: USP9X",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:25.134684+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 2A, 276901 (3) for gene: USH2A",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:23.695707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 1G, 606943 (3) for gene: USH1G",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:22.391353+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 1C, 276904 (3) for gene: USH1C",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:21.494158+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 14, 300676 (3) for gene: UPF3B",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:20.196244+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, 3, 608898 (3) for gene: UNC13D",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:18.912534+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Crigler-Najjar syndrome, type I, 218800 (3) for gene: UGT1A1",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:17.586347+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Johanson-Blizzard syndrome, 243800 (3) for gene: UBR1",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:16.594552+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:15.266851+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive for gene: UBA5",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:13.903084+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 III, 203290 (3) for gene: TYRP1",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:12.997958+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 IA, 203100 (3) for gene: TYR",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:11.698002+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 1 (MNGIE type), 603041 (3) for gene: TYMP",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:10.401256+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 7 (hepatocerebral type), 271245 (3) for gene: TWNK",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:09.104944+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 14, 600132 (3) for gene: TULP1",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:08.171162+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ataxia with isolated vitamin E deficiency, 277460 (3) for gene: TTPA",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:06.700915+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 8, 615985 (3) for gene: TTC8",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:05.485199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 (3) for gene: TTC7A",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:04.404619+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 1, 222470 (3) for gene: TTC37",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:03.169736+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypothryoidism, congenital, nongoitrous 4, 275100 (3) for gene: TSHB",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:01.599356+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 3, 610505 (3) for gene: TSFM",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:08:00.120391+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 2A, 277470 (3) for gene: TSEN54",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:59.095273+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 2B, 612389 (3) for gene: TSEN2",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:57.779582+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypomagnesemia 1, intestinal, 602014 (3) for gene: TRPM6",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:56.386104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Liver failure, transient infantile, 613070 (3) for gene: TRMU",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:54.921123+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mulibrey nanism, 253250 (3) for gene: TRIM37",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:53.875239+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 2H, 254110 (3) for gene: TRIM32",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:52.516258+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 1, dominant and recessive, 225750 (3) for gene: TREX1",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:51.297548+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) for gene: TRDN",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:50.277859+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, 2, 204500 (3) for gene: TPP1",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:48.906712+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 7, 614969 (3), Autosomal recessive for gene: TOE1",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:47.591862+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly 8, 617255 (3), Autosomal recessive for gene: TMTC3",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:46.198190+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 6, 610688 (3) for gene: TMEM67",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:45.297981+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 14, 614424 (3) for gene: TMEM237",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:44.078973+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 20, 614970 (3) for gene: TMEM231",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:42.709094+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 2, 608091 (3) for gene: TMEM216",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:41.681153+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 16, 614465 (3) for gene: TMEM138",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:40.395934+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 2 (myopathic type), 609560 (3) for gene: TK2",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:39.164676+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 12/35, 300957 (3), X-linked recessive for gene: THOC2",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:37.694972+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Segawa syndrome, recessive, MIM# 605407 for gene: TH",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:36.577779+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ichthyosis, congenital, autosomal recessive 1, 242300 (3) for gene: TGM1",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:35.302519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Atransferrinemia, 209300 (3) for gene: TF",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:34.001647+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive for gene: TELO2",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:32.983437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031 for gene: TECPR2\nPublications for gene TECPR2 were updated from 23176824; 26542466; 35130874 to 26542466; 23176824; 35130874",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:31.675514+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 18, 614815 (3) for gene: TCTN3",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:30.463268+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 24 for gene: TCTN2",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:29.196989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Transcobalamin II deficiency, 275350 (3) for gene: TCN2",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:28.296649+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Osteopetrosis, autosomal recessive 1, 259700 (3) for gene: TCIRG1",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:27.069196+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Kenny-Caffey syndrome-1, 244460 (3) for gene: TBCE",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:25.768358+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive for gene: TBCD",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:24.487015+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epileptic encephalopathy, early infantile, 16, 615338 (3) for gene: TBC1D24",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:23.499324+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 11, 617695 (3), Autosomal recessive for gene: TBC1D23",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:22.268332+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Barth syndrome, 302060 (3) for gene: TAZ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:20.904447+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 II\t(MIM#276600) for gene: TAT",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:19.896801+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration for gene: TANGO2",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:18.572875+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) for gene: SYN1",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:17.281993+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, due to COX deficiency, 256000 (3) for gene: SURF1",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:15.800519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sulfite oxidase deficiency, 272300 (3) for gene: SUOX",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:14.892359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Multiple sulfatase deficiency, 272200 (3) for gene: SUMF1",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:13.674251+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, 5, 613101 (3) for gene: STXBP2",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:12.317463+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, 4, 603552 (3) for gene: STX11",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:11.478748+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lipoid adrenal hyperplasia, 201710 (3) for gene: STAR",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:10.181941+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive for gene: ST3GAL5",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:08.894991+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, due to sepiapterin reductase deficiency, 612716 (3) for gene: SPR",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:07.695501+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Netherton syndrome, 256500 (3) for gene: SPINK5",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:06.708667+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 11, autosomal recessive, MIM# 604360 for gene: SPG11",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:05.408923+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive for gene: SPATA5",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:04.066137+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) for gene: SNAP29",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:03.031497+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Niemann-Pick disease, type A, 257200 (3) for gene: SMPD1",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:07:01.504393+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spinal muscular atrophy-1, 253300 (3) for gene: SMN1",
"entity_name": "SMN1",
"entity_type": "gene"
}
]
}