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{
"created": "2023-11-02T16:58:43.090614+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pycnodysostosis, 265800 (3) for gene: CTSK",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:41.805476+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, 10, 610127 (3) for gene: CTSD",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:40.922495+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Papillon-Lefevre syndrome, 245000 (3) for gene: CTSC",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:39.671543+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Galactosialidosis, 256540 (3) for gene: CTSA",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:38.393274+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cystinosis, nephropathic, 219800 (3) for gene: CTNS",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:37.168208+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 21, 615636 (3) for gene: CSPP1",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:36.077346+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Osteogenesis imperfecta, type VII, 610682 (3) for gene: CRTAP",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:34.768699+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 8, 613835 (3) for gene: CRB1",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:33.387237+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes CPT II deficiency, lethal neonatal, 608836 (3) for gene: CPT2",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:32.396999+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes CPT deficiency, hepatic, type IA, 255120 (3) for gene: CPT1A",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:31.167789+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Carbamoylphosphate synthetase I deficiency, 237300 (3) for gene: CPS1",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:29.871367+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 2, 615119 (3) for gene: COX15",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:28.389271+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Myasthenic syndrome, congenital, 5, 603034 (3) for gene: COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:27.563270+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 3MC syndrome 2, 265050 (3) for gene: COLEC11",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:26.087836+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 dystrophica, AR, 226600 (3) for gene: COL7A1",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:24.786961+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ullrich congenital muscular dystrophy 1, 254090 (3) for gene: COL6A1",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:23.786500+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome 1, X-linked for gene: COL4A5",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:22.502860+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A4",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:21.176837+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome, autosomal recessive, 203780 (3) for gene: COL4A3",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:19.791962+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Steel Syndrome for gene: COL27A1",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:18.783901+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Knobloch syndrome, type 1, 267750 (3) for gene: COL18A1",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:17.396427+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, non-Herlitz type, 226650 (3) for gene: COL17A1",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:16.078127+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fibrochondrogenesis 2, 614524 (3) for gene: COL11A2",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:15.106277+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Macular degeneration, juvenile, 248200 (3) for gene: CNGB3",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:13.867802+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 3A, 276902 (3) for gene: CLRN1",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:12.493851+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, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) for gene: CLPB",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:11.177666+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 10, 615803 (3) for gene: CLP1",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:10.165863+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, 8, 600143 (3) for gene: CLN8",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:08.873995+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 6, 601780 (3) for gene: CLN6",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:07.491477+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, 5, 256731 (3) for gene: CLN5",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:06.076730+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, 3, 204200 (3) for gene: CLN3",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:05.098380+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 4, 611490 (3) for gene: CLCN7",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:03.768669+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dent disease, 300009 (3) for gene: CLCN5",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:02.496170+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Filippi syndrome, 272440 (3) for gene: CKAP2L",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:01.371052+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bare lymphocyte syndrome, type II, complementation group A, 209920 (3) for gene: CIITA",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:59.893352+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Escobar syndrome, 265000 (3) for gene: CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:58.595193+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) for gene: CHRNE",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:57.298801+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) for gene: CHAT",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:56.399036+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cystic fibrosis, 219700 (3) for gene: CFTR",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:55.089565+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 15, 614464 (3) for gene: CEP41",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:53.864294+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 5, 610188 (3) for gene: CEP290",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:52.882569+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 5, 613823 (3) for gene: CEP152",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:51.681493+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly 6, primary, autosomal recessive, 608393 (3) for gene: CENPJ",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:50.294440+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 1D, 601067 (3) for gene: CDH23",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:48.996291+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) for gene: CD40LG",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:47.996291+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency with hyper-IgM, type 3, 606843 (3) for gene: CD40",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:46.766187+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency 19, 615617 (3) for gene: CD3D",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:45.472178+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3) for gene: CCDC88C",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:44.590749+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ciliary dyskinesia, primary, 14, 613807 (3) for gene: CCDC39",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:43.295059+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ciliary dyskinesia, primary, 17, 614679 (3) for gene: CCDC103",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:42.000940+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) for gene: CCBE1",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:40.808236+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 9, 612285 (3) for gene: CC2D2A",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:39.771933+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 3, 608443 (3) for gene: CC2D1A",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:38.574567+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, 2, 611938 (3) for gene: CASQ2",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:37.304441+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, with or without nystagmus for gene: CASK",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:35.998308+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 2A, 253600 (3) for gene: CAPN3",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:34.988488+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Desbuquois dysplasia, 251450 (3) for gene: CANT1",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:33.676578+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 17, 614615 (3) for gene: C5orf42",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:32.306494+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Agammaglobulinemia and isolated hormone deficiency, 307200 (3) for gene: BTK",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:31.387866+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 4a, 602522 (3) for gene: BSND",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:30.081198+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 93, 300659 (3) for gene: BRWD3",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:28.805651+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) for gene: BRAT1",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:27.602927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bloom syndrome, 210900 (3) for gene: BLM",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:26.696120+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes GRACILE syndrome, 603358 (3) for gene: BCS1L",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:25.391873+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Maple syrup urine disease, type Ib, 248600 (3) for gene: BCKDHB",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:24.101203+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Maple syrup urine disease, type Ia, 248600 (3) for gene: BCKDHA",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:23.268859+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 9, 615986 (3) for gene: BBS9",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:22.074162+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 7, 615984 (3) for gene: BBS7",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:20.864507+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 5, 615983 (3) for gene: BBS5",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:19.474110+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 4, 615982 (3) for gene: BBS4",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:18.490229+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 2, 615981 (3) for gene: BBS2",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:17.180407+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 12, 615989 (3) for gene: BBS12",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:15.791516+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 10, 615987 (3) for gene: BBS10",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:14.895822+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 1, 209900 (3) for gene: BBS1",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:13.613808+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peters-plus syndrome, 261540 (3) for gene: B3GLCT",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:12.380740+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, type I, 250950 (3) for gene: AUH",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:11.088233+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-hypotonic facies syndrome, X-linked, 309580 (3) for gene: ATRX",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:10.172203+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 1, 210600 (3) for gene: ATR",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:08.968696+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 1, 211600 (3) for gene: ATP8B1",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:07.575039+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Wilson disease, 277900 (3) for gene: ATP7B",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:06.071236+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Menkes disease, 309400 (3) for gene: ATP7A",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:05.189758+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Renal tubular acidosis with deafness, 267300 (3) for gene: ATP6V1B1",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:03.898778+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ataxia-telangiectasia, 208900 (3) for gene: ATM",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:02.664325+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Citrullinemia, 215700 (3) for gene: ASS1",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:57:01.470797+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly 5, primary, autosomal recessive, 608716 (3) for gene: ASPM",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:59.993770+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Canavan disease, 271900 (3) for gene: ASPA",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:58.593955+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Asparagine synthetase deficiency, 615574 (3) for gene: ASNS",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:57.296860+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Argininosuccinic aciduria, 207900 (3) for gene: ASL",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:56.282744+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hydranencephaly with abnormal genitalia, 300215 (3) for gene: ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:55.005998+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 VI (Maroteaux-Lamy), 253200 (3) for gene: ARSB",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:53.700506+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, 250100 (3) for gene: ARSA",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:52.808450+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 3, 600151 (3) for gene: ARL6",
"entity_name": "ARL6",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:51.598636+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 8, 612291 (3) for gene: ARL13B",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:50.220861+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Argininemia, 207800 (3) for gene: ARG1",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:48.790908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Diabetes insipidus, nephrogenic, 125800 (3) for gene: AQP2",
"entity_name": "AQP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:47.902593+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 5, 304340 (3) for gene: AP1S2",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:46.664645+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: AMT",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:45.381884+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 9, 615809 (3) for gene: AMPD2",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:44.378685+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypophosphatasia, infantile, 241500 (3) for gene: ALPL",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:56:43.095146+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Alstrom syndrome, 203800 (3) for gene: ALMS1",
"entity_name": "ALMS1",
"entity_type": "gene"
}
]
}