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"count": 221415,
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{
"created": "2023-11-02T17:04:55.201114+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 VII, 232800 (3) for gene: PFKM",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:53.966814+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3) for gene: PEX7",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:52.984017+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:51.595110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:50.282177+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:48.898173+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger), 614866 for gene: PEX2",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:47.983021+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 8A, (Zellweger), 614876 for gene: PEX16",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:46.725040+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883 for gene: PEX13",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:45.369618+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 3A (Zellweger), 614859 for gene: PEX12",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:44.383835+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 6A (Zellweger), 614870 for gene: PEX10",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:43.076329+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Peroxisome biogenesis disorder 1A (Zellweger), 214100 for gene: PEX1",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:41.707067+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 IV deficiency, 220110 (3) for gene: PET100",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:40.473030+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Prolidase deficiency, 170100 (3) for gene: PEPD",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:39.591421+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pyruvate dehydrogenase E1-beta deficiency, 614111 (3) for gene: PDHB",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:38.295890+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170) for gene: PDHA1\nPublications for gene PDHA1 were updated from 28584645; 22142326 to 22142326; 28584645",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:37.118964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3) for gene: PCNT",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:36.077723+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Developmental and epileptic encephalopathy 9 (MIM#300088) for gene: PCDH19\nPublications for gene PCDH19 were updated from 18469813; 30287595 to 30287595; 18469813",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:34.696557+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 1F, 602083 (3) for gene: PCDH15",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:33.393683+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCB",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:32.100991+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Propionicacidemia, 606054 (3) for gene: PCCA",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:31.075227+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Pyruvate carboxylase deficiency, 266150 (3) for gene: PC",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:29.867116+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Neurodegeneration with brain iron accumulation 1, MIM#234200 for gene: PANK2",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:28.500225+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 30/47, 300558 (3) for gene: PAK3",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:27.597447+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Phenylketonuria, 261600 (3) for gene: PAH",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:26.281875+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 VIII, 610915 (3) for gene: P3H1",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:25.012345+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Ornithine transcarbamylase deficiency, 311250 (3) for gene: OTC",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:23.695275+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 5, 259720 (3) for gene: OSTM1",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:22.781950+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive for gene: OSGEP",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:21.508405+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, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) for gene: OPHN1",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:20.093689+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 III, 258501 (3) for gene: OPA3",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:18.697076+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Behr syndrome, 210000 (3), Autosomal recessive for gene: OPA1",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:17.794212+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 10, 300804 (3) for gene: OFD1",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:16.469513+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lowe syndrome, 309000 (3) for gene: OCRL",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:15.166270+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Insensitivity to pain, congenital, with anhidrosis, 256800 (3) for gene: NTRK1",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:14.182925+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes 46XY sex reversal 2, dosage-sensitive, 300018 (3) for gene: NR0B1",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:12.972900+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Nephrotic syndrome, type 2, 600995 (3) for gene: NPHS2",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:11.786698+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Nephrotic syndrome, type 1, 256300 (3) for gene: NPHS1",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:10.473332+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Meckel syndrome 7, 267010 (3) for gene: NPHP3",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:09.489316+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 4, 609583 (3) for gene: NPHP1",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:08.277098+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 C2, MIM#607625 for gene: NPC2",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:06.867570+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 C1, MIM#257220 for gene: NPC1\nPublications for gene NPC1 were updated from 11333381; 26910362 to 26910362; 11333381",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:05.885177+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Glucocorticoid deficiency 4, 614736 (3) for gene: NNT",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:04.570792+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of deglycosylation, 615273 (3) for gene: NGLY1",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:03.114806+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Sialidosis, type I, 256550 (3) for gene: NEU1",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:01.572570+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Nemaline myopathy 2, autosomal recessive (MIM#256030); Arthrogryposis multiplex congenita 6 (MIM#619334) for gene: NEB",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:04:00.513160+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: NDUFV1",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:59.212580+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, 256000 (3) for gene: NDUFS7",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:57.971640+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: NDUFS6",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:57.086123+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, 256000 (3) for gene: NDUFS4",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:55.803191+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 1 deficiency, 252010 (3) for gene: NDUFAF5",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:54.392881+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, 256000 (3) for gene: NDUFAF2",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:53.109631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease, type 4D, 601455 (3) for gene: NDRG1",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:52.095895+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Norrie disease, 310600 (3) for gene: NDP",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:50.897258+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly 4 (with microcephaly), 614019 (3) for gene: NDE1",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:49.567853+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 due to deficiency of NCF-2, 233710 (3) for gene: NCF2",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:48.196825+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Nijmegen breakage syndrome, 251260 (3) for gene: NBN",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:47.271844+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 24, 616239 (3) for gene: NARS2",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:45.866419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) for gene: NALCN",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:44.476450+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes N-acetylglutamate synthase deficiency, 237310 (3) for gene: NAGS",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:43.387731+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 IIIB (Sanfilippo B), 252920 (3) for gene: NAGLU",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:42.103356+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Schindler disease, type I, 609241 (3) for gene: NAGA",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:40.880650+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 1B, 276900 (3) for gene: MYO7A",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:39.578519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microvillus inclusion disease, 251850 (3) for gene: MYO5B",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:38.680025+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mevalonic aciduria, 610377 (3) for gene: MVK",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:37.371356+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria, mut(0) type, 251000 (3) for gene: MUT",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:35.993981+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, 9, associated with acetylcholine receptor deficiency, 616325 (3) for gene: MUSK",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:35.083854+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Abetalipoproteinemia, 200100 (3) for gene: MTTP",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:33.787574+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) for gene: MTRR",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:32.511110+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3) for gene: MTR",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:31.264842+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 (3) for gene: MTMR2",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:30.373466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Myotubular myopathy, X-linked, 310400 (3) for gene: MTM1",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:29.176309+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 (3) for gene: MTHFR",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:27.806708+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 15, 614947 (3) for gene: MTFMT",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:26.809565+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-like disorder, 604391 (3) for gene: MRE11",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:25.583246+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 6 (hepatocerebral type), 256810 (3) for gene: MPV17",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:24.302546+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia, congenital amegakaryocytic, 604498 (3) for gene: MPL",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:22.910305+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Congenital disorder of glycosylation, type Ib, 602579 (3) for gene: MPI",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:21.974487+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Molybdenum cofactor deficiency B, 252160 (3) for gene: MOCS2",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:20.663312+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Molybdenum cofactor deficiency A, 252150 (3) for gene: MOCS1",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:19.306663+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) for gene: MMADHC",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:18.068010+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) for gene: MMACHC",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:17.102393+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) for gene: MMAB",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:15.865365+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) for gene: MMAA",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:14.594690+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3) for gene: MLYCD",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:13.682270+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) for gene: MLC1",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:12.490461+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Meckel syndrome 1, 249000 (3) for gene: MKS1",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:11.120637+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes McKusick-Kaufman syndrome, 236700 (3) for gene: MKKS",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:09.691503+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Opitz GBBB syndrome, type I, 300000 (3) for gene: MID1",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:08.797683+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, 7, 610951 (3) for gene: MFSD8",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:07.487115+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive for gene: MFN2",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:06.116109+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 44, 615942 (3) for gene: METTL23",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:05.099664+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 2, autosomal recessive, 608681 (3) for gene: MESP2",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:03.777730+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) for gene: MED17",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:02.429069+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Lujan-Fryns syndrome, 309520 (3) for gene: MED12",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:03:00.820296+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Encephalopathy, neonatal severe, 300673 (3) for gene: MECP2",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:59.785447+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Microcephaly 1, primary, autosomal recessive, 251200 (3) for gene: MCPH1",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:58.564480+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mucolipidosis IV, 252650 (3) for gene: MCOLN1",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:57.190916+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 1, 257920 (3) for gene: MASP1",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:56.192684+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mannosidosis, beta, 248510 (3) for gene: MANBA",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2023-11-02T17:02:54.803908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.3",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added phenotypes Mannosidosis, alpha-, types I and II, 248500 (3) for gene: MAN2B1",
"entity_name": "MAN2B1",
"entity_type": "gene"
}
]
}