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{
"created": "2020-08-27T20:59:59.229675+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cerebrotendinous xanthomatosis for gene: CYP27A1",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:58.932676+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency for gene: CYP21A2",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:58.637829+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency for gene: CYP11B1",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:58.339955+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete for gene: CYP11A1",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:58.041145+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Chronic granulomatous disease for gene: CYBB",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:57.739359+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Chronic granulomatous disease for gene: CYBA",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:57.442986+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes 3-M syndrome for gene: CUL7",
"entity_name": "CUL7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:57.142794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Megaloblastic anemia-1, Finnish type for gene: CUBN",
"entity_name": "CUBN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:56.845824+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Pycnodysostosis for gene: CTSK",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:56.546776+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 10 for gene: CTSD",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:56.042864+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cystinosis for gene: CTNS",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:55.741356+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Coats plus syndrome for gene: CTC1",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:55.444835+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Epilepsy, progressive myoclonic 1A for gene: CSTB",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:55.142079+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Pulmonary alveolar proteinosis for gene: CSF2RA",
"entity_name": "CSF2RA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:54.846367+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Myofibrillar myopathy for gene: CRYAB",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:54.550558+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Osteogenesis imperfecta, type VII for gene: CRTAP",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:54.318821+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Crisponi syndrome for gene: CRLF1",
"entity_name": "CRLF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:54.026158+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Rubinstein-Taybi syndrome for gene: CREBBP",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:53.437562+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Carnitine palmitoyltransferase 2 deficiency for gene: CPT2",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:53.141888+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:52.848284+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Carbamoylphosphate synthetase I deficiency for gene: CPS1",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:52.546382+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital myasthenic syndrome for gene: COLQ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:52.251417+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa dystrophica for gene: COL7A1",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:52.017439+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A3",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:51.720585+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A2",
"entity_name": "COL6A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:51.420648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A1",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:50.839528+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ehlers-Danlos syndrome for gene: COL5A2",
"entity_name": "COL5A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:50.544197+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ehlers-Danlos syndrome, type I for gene: COL5A1",
"entity_name": "COL5A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:50.246798+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome for gene: COL4A5",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:49.950251+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome for gene: COL4A4",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:49.656886+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alport syndrome for gene: COL4A3",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:49.418848+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ehlers-Danlos syndrome, type IV for gene: COL3A1",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:49.121763+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Stickler syndrome for gene: COL2A1",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:48.826123+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Osteogenesis imperfecta, type II for gene: COL1A2",
"entity_name": "COL1A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:48.531981+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Osteogenesis imperfecta, type I for gene: COL1A1",
"entity_name": "COL1A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:48.235521+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Epidermolysis bullosa, junctional, non-Herlitz type for gene: COL17A1",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:47.723024+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Otospondylomegaepiphyseal dysplasia for gene: COL11A2",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:47.431296+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Stickler syndrome for gene: COL11A1",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:47.134827+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Deafness, non-syndromic, autosomal dominant for gene: COCH",
"entity_name": "COCH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:46.842069+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Achromatopsia-3 for gene: CNGB3",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:46.542097+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 3A for gene: CLRN1",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:46.247861+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 8 for gene: CLN8",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:45.956785+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 6 for gene: CLN6",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:45.658229+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 5 for gene: CLN5",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:45.423445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ceroid lipofuscinosis, neuronal, 3 for gene: CLN3",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:45.125842+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypomagnesemia 5, renal, with ocular involvement for gene: CLDN19",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:44.547002+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hearing loss, non-syndromic, autosomal recessive for gene: CLDN14",
"entity_name": "CLDN14",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:44.247797+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Dent disease for gene: CLCN5",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:43.955772+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Pterygium syndrome for gene: CHRNG",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:43.647221+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital myasthenic syndrome for gene: CHRNE",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:43.356424+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital myasthenic syndrome for gene: CHRND",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:43.120819+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital myasthenic syndrome for gene: CHRNA1",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:42.825002+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Choroideremia for gene: CHM",
"entity_name": "CHM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:42.529312+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Muscular dystrophy, congenital, megaconial type for gene: CHKB",
"entity_name": "CHKB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:41.955893+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes CHARGE syndrome for gene: CHD7",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:41.722609+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Developmental delay, intellectual disability, epilepsy for gene: CHD2",
"entity_name": "CHD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:41.427497+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital myasthenic syndrome for gene: CHAT",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:41.131276+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cystic fibrosis for gene: CFTR",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:40.831444+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Properdin deficiency, X-linked for gene: CFP",
"entity_name": "CFP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:40.534308+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Nemaline myopathy for gene: CFL2",
"entity_name": "CFL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:40.234969+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital heart defects for gene: CFC1",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:39.937698+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Joubert syndrome for gene: CEP290",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:39.434404+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Seckel syndrome for gene: CEP152",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:39.136233+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypotrichosis for gene: CDSN",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:38.842383+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:38.544605+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:38.252850+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Usher syndrome, type 1D for gene: CDH23",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:38.018894+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Deafness, autosomal recessive for gene: CDH23",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:37.725697+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Anemia, congenital dyserythropoietic, type I for gene: CDAN1",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:37.432416+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Immunodeficiency, X-linked, with hyper-IgM for gene: CD40LG",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:37.135499+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Primary ciliary dyskinesia for gene: CCDC40",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:36.841476+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Primary ciliary dyskinesia for gene: CCDC39",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:36.331056+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Joubert syndrome for gene: CC2D2A",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:36.041384+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Homocystinuria, B6-responsive and nonresponsive types for gene: CBS",
"entity_name": "CBS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:35.735188+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia for gene: CBL",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:35.437250+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Caveolinopathy for gene: CAV3",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:35.141452+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Muscular dystrophy, limb-girdle, type IC, for gene: CAV3",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:34.846630+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: CASQ2",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:34.553591+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia for gene: CASK",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:34.318771+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Muscular dystrophy, limb-girdle, type 2A for gene: CAPN3",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:34.025573+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F",
"entity_name": "CACNA1F",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:33.728202+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Episodic ataxia, type 2 for gene: CACNA1A",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:33.144849+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis for gene: CA2",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:32.850050+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Spinocerebellar ataxia infantile-onset for gene: TWNK",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:32.617419+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Agammaglobulinemia, X-linked 1 for gene: BTK",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:32.321923+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Biotinidase deficiency for gene: BTD",
"entity_name": "BTD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:32.030348+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bartter syndrome with sensorineural deafness for gene: BSND",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:31.731367+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Berardinelli-Seip lipodystrophy for gene: BSCL2",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:31.433825+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Fanconi anemia, complementation group D1 for gene: BRCA2",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:31.140959+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiofaciocutaneous syndrome for gene: BRAF",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:30.623318+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Juvenile polyposis syndrome for gene: BMPR1A",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:30.332358+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bloom syndrome for gene: BLM",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:30.047719+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Myopathy, centronuclear, autosomal recessive for gene: BIN1",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:29.731353+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital spinal muscular atrophy for gene: BICD2",
"entity_name": "BICD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:29.431449+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Complex 3 deficiency for gene: BCS1L",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:29.132052+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Maple syrup urine disease for gene: BCKDHB",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:28.831194+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Maple syrup urine disease for gene: BCKDHA",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:28.535661+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bardet-Biedl syndrome for gene: BBS9",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:28.237583+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bardet-Biedl syndrome for gene: BBS7",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:27.729590+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bardet-Biedl syndrome for gene: BBS5",
"entity_name": "BBS5",
"entity_type": "gene"
}
]
}