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{
"created": "2023-11-02T17:00:50.973210+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 IV, 232500 (3) for gene: GBE1",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:49.540267+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 3, 612718 (3) for gene: GATM",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:48.503778+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 2, 612736 (3) for gene: GAMT",
"entity_name": "GAMT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:47.163276+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Galactosemia, 230400 (3) for gene: GALT",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:45.921333+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis IVA, 253000 (3) for gene: GALNS",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:44.573528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Krabbe disease, 245200 (3) for gene: GALC",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:43.590788+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 II, 232300 (3) for gene: GAA",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:42.187035+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dursun syndrome, 612541 (3) for gene: G6PC3",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:40.806641+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 Ia, 232200 (3) for gene: G6PC",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:39.963345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fucosidosis, 230000 (3) for gene: FUCA1",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:38.503973+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 9, 309549 (3) for gene: FTSJ1",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:37.184475+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fraser syndrome, 219000 (3) for gene: FREM2",
"entity_name": "FREM2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:35.790187+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fraser syndrome, 219000 (3) for gene: FRAS1",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:34.796411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial complex I deficiency, 252010 (3) for gene: FOXRED1",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:33.470303+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) for gene: FOXN1",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:32.174310+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fragile X syndrome for gene: FMR1",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:31.227462+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes FG syndrome 2, 300321 (3) for gene: FLNA",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:29.888294+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, 4, 253800 (3) for gene: FKTN",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:28.566116+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, 5, 613153 (3) for gene: FKRP",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:27.172073+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bruck syndrome 1, 259450 (3) for gene: FKBP10",
"entity_name": "FKBP10",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:26.276749+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) for gene: FHL1",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:24.896233+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fumarase deficiency, 606812 (3) for gene: FH",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:23.596427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Parkinson disease 15, autosomal recessive, 260300 (3) for gene: FBXO7",
"entity_name": "FBXO7",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:22.689671+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Fructose-1,6-bisphosphatase deficiency, 229700 (3) for gene: FBP1",
"entity_name": "FBP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:21.264518+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 2, 616006 (3) for gene: FAT4",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:19.794927+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 L, 614083 (3) for gene: FANCL",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:18.518044+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 I, 609053 (3) for gene: FANCI",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:17.485932+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 G, 614082 (3) for gene: FANCG",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:16.196069+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 F, 603467 (3) for gene: FANCF",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:14.975102+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 E, 600901 (3) for gene: FANCE",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:13.664491+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 D2, 227646 (3) for gene: FANCD2",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:12.782335+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 C, 227645 (3) for gene: FANCC",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:11.031089+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 B, 300514 (3) for gene: FANCB",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:09.603553+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 A, 227650 (3) for gene: FANCA",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:08.046340+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, 5, 610532 (3) for gene: FAM126A",
"entity_name": "FAM126A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:05.132318+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 I, 276700 (3) for gene: FAH",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:00:01.401532+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dysprothrombinaemia, 613679; Hypoprothrombinaemia (MIM#613679) for gene: F2",
"entity_name": "F2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:59.667390+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 1C, 616081 (3) for gene: EXOSC8",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:58.694344+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 1B, 614678 (3) for gene: EXOSC3",
"entity_name": "EXOSC3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:57.381656+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC2",
"entity_name": "EVC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:56.100977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ellis-van Creveld syndrome, 225500 (3) for gene: EVC",
"entity_name": "EVC",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:55.188466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ethylmalonic encephalopathy, 602473 (3) for gene: ETHE1",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:53.898398+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glutaric acidemia IIC, 231680 (3) for gene: ETFDH",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:52.633395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glutaric acidemia IIB, 231680 (3) for gene: ETFB",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:51.292064+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glutaric acidemia IIA, 231680 (3) for gene: ETFA",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:50.377150+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes SC phocomelia syndrome, 269000 (3) for gene: ESCO2",
"entity_name": "ESCO2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:48.898289+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cockayne syndrome, type A, 216400 (3) for gene: ERCC8",
"entity_name": "ERCC8",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:47.672619+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cockayne syndrome, type B, 133540 (3) for gene: ERCC6",
"entity_name": "ERCC6",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:46.588372+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 G, 278780 (3) for gene: ERCC5",
"entity_name": "ERCC5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:45.292753+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 Q, 615272 (3) for gene: ERCC4",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:43.969277+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebrooculofacioskeletal syndrome 2, 610756 (3) for gene: ERCC2",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:42.574317+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Vici syndrome, 242840 (3) for gene: EPG5",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:41.498281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) for gene: ENPP1",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:40.382318+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3) for gene: EMD",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:39.164405+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dysautonomia, familial, 223900 (3) for gene: ELP1",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:37.887071+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B5",
"entity_name": "EIF2B5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:36.871756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukoencephaly with vanishing white matter, 603896 (3) for gene: EIF2B4",
"entity_name": "EIF2B4",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:35.394560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B3",
"entity_name": "EIF2B3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:34.205564+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B2",
"entity_name": "EIF2B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:33.282360+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 (3) for gene: EIF2B1",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:32.063487+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Wolcott-Rallison syndrome, 226980 (3) for gene: EIF2AK3",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:30.610115+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) for gene: EDA",
"entity_name": "EDA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:29.288660+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3) for gene: ECHS1",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:28.404399+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 2B, 253601 (3) for gene: DYSF",
"entity_name": "DYSF",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:27.165497+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 3 with or without polydactyly, 613091 (3) for gene: DYNC2H1",
"entity_name": "DYNC2H1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:25.688697+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dyggve-Melchior-Clausen disease, 223800 (3) for gene: DYM",
"entity_name": "DYM",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:24.695920+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, 10, 254300 (3) for gene: DOK7",
"entity_name": "DOK7",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:23.496621+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Adams-Oliver syndrome 2, 614219 (3) for gene: DOCK6",
"entity_name": "DOCK6",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:22.186902+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 1, 242860 (3) for gene: DNMT3B",
"entity_name": "DNMT3B",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:20.878816+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, 9, with or without situs inversus, 612444 (3) for gene: DNAI2",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:19.806070+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, 1, with or without situs inversus, 244400 (3) for gene: DNAI1",
"entity_name": "DNAI1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:18.477538+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, 3, with or without situs inversus, 608644 (3) for gene: DNAH5",
"entity_name": "DNAH5",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:17.190225+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, 7, with or without situs inversus, 611884 (3) for gene: DNAH11",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:16.282047+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Duchenne muscular dystrophy, 310200 (3) for gene: DMD",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:14.998600+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Spondylocostal dysostosis 1, autosomal recessive, 277300 (3) for gene: DLL3",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:13.785924+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 90, 300850 (3) for gene: DLG3",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:12.477246+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Dihydrolipoamide dehydrogenase deficiency, 246900 (3) for gene: DLD",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:11.478614+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, X-linked, 305000 (3) for gene: DKC1",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:10.189785+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Perlman syndrome, 267000 (3) for gene: DIS3L2",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:08.869787+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 59, 613861 (3) for gene: DHDDS",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:07.591213+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Smith-Lemli-Opitz syndrome, 270400 (3) for gene: DHCR7",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:06.503617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Desmosterolosis, 602398 (3) for gene: DHCR24",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:05.182632+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 3 (hepatocerebral type), 251880 (3) for gene: DGUOK",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:03.888988+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes ?Diarrhea 7, protein-losing enteropathy type for gene: DGAT1",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:02.878837+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Warsaw breakage syndrome, 613398 (3) for gene: DDX11",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:59:01.402421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Aromatic L-amino acid decarboxylase deficiency, 608643 (3) for gene: DDC",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:59.969118+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly, X-linked, 300067 (3) for gene: DCX",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:58.689620+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, Athabascan type, 602450 (3) for gene: DCLRE1C",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:57.768638+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Woodhouse-Sakati syndrome, 241080 (3) for gene: DCAF17",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:56.443737+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 II, 248600 (3) for gene: DBT",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:55.072663+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes D-2-hydroxyglutaric aciduria, 600721 (3) for gene: D2HGDH",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:54.088055+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Bile acid synthesis defect, congenital, 3, 613812 (3) for gene: CYP7B1",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:52.773380+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Cerebrotendinous xanthomatosis, 213700 (3) for gene: CYP27A1",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:51.581423+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3) for gene: CYP1B1",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:50.175574+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 17,20-lyase deficiency, isolated, 202110 (3) for gene: CYP17A1",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:49.099699+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3) for gene: CYP11B2",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:47.801859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) for gene: CYP11A1",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:46.572283+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chronic granulomatous disease, X-linked, 306400 (3) for gene: CYBB",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:45.672805+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) for gene: CYBA",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2023-11-02T16:58:44.378494+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 15 (Cabezas type), 300354 (3) for gene: CUL4B",
"entity_name": "CUL4B",
"entity_type": "gene"
}
]
}