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{
"count": 221284,
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"results": [
{
"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"
},
{
"created": "2020-08-27T20:59:27.431519+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: BBS4",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:27.137436+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: BBS2",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:26.836767+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: BBS12",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:26.539577+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: BBS10",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:26.242338+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: BBS1",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:25.941517+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bile acid amidation defect for gene: BAAT",
"entity_name": "BAAT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:25.644243+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Peters-Plus syndrome for gene: B3GLCT",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:25.345434+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Diabetes insipidus, nephrogenic for gene: AVPR2",
"entity_name": "AVPR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:24.823222+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-methylglutaconic aciduria, type I for gene: AUH",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:24.527720+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:24.234948+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 1 for gene: ATP8B1",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:23.934216+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Wilson disease for gene: ATP7B",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:23.634620+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Occipital horn syndrome for gene: ATP7A",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:23.336879+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Menkes syndrome for gene: ATP7A",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:23.045231+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Renal tubular acidosis & hearing loss for gene: ATP6V1B1",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:22.747563+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cutis laxa, autosomal recessive, type IIA for gene: ATP6V0A2",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:22.445830+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Brody myopathy for gene: ATP2A1",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:22.147703+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hemiplegic migraine for gene: ATP1A2",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:21.639202+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ataxia-telangiectasia for gene: ATM",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:21.349813+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Citrullinemia for gene: ASS1",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:21.048603+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Canavan disease for gene: ASPA",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:20.749454+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Argininosuccinic aciduria for gene: ASL",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:20.454324+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Lissencephaly, X-linked 2 for gene: ARX",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:20.223919+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) for gene: ARSB",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:19.928798+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Metachromatic leukodystrophy for gene: ARSA",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:19.631631+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: ARMC4",
"entity_name": "ARMC4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:19.118796+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Coffin-Siris syndrome for gene: ARID1B",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:18.824465+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Arginase deficiency for gene: ARG1",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:18.529349+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:18.235024+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Androgen insensitivity for gene: AR",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:17.936450+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX",
"entity_name": "APTX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:17.638578+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Apolipoprotein B deficiency for gene: APOB",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:17.346080+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adenomatous polyposis coli, attenuated for gene: APC",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:17.048297+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adenomatous polyposis coli for gene: APC",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:16.750444+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hermansky-Pudlak syndrome 2 for gene: AP3B1",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:16.231946+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hyaline fibromatosis syndrome for gene: ANTXR2",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:15.938806+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 2L for gene: ANO5",
"entity_name": "ANO5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:15.657782+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, autosomal recessive 10 for gene: ANO10",
"entity_name": "ANO10",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:15.344702+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Thrombocytopenia 2 for gene: ANKRD26",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:15.057279+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Craniometaphyseal dysplasia for gene: ANKH",
"entity_name": "ANKH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:14.751069+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Spherocytosis for gene: ANK1",
"entity_name": "ANK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:14.520436+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hyperglycinaemia, non-ketotic for gene: AMT",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:14.226100+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, Norwegian type for gene: AMN",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:13.931037+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Amelogenesis imperfecta for gene: AMELX",
"entity_name": "AMELX",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:13.329338+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Parietal foramina 2 for gene: ALX4",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:13.036757+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Amyotrophic lateral sclerosis for gene: ALS2",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:12.734644+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypophosphatasia for gene: ALPL",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:12.439925+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOXE3",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:12.145465+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOX12B",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:11.849898+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alstrom syndrome for gene: ALMS1",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:11.553396+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 disorder of glycosylation, type Ih for gene: ALG8",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:11.318714+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 disorder of glycosylation, type Ic for gene: ALG6",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:11.028205+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 disorder of glycosylation, type Id for gene: ALG3",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:10.728127+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 disorder of glycosylation, type Ig for gene: ALG12",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:10.151966+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 disorder of glycosylation, type Ik for gene: ALG1",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:09.856840+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Fructose intolerance for gene: ALDOB",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:09.618730+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Succinic semialdehyde dehydrogenase deficiency for gene: ALDH5A1",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:09.324632+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Sjogren-Larsson syndrome for gene: ALDH3A2",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:09.034513+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cutis laxa, autosomal recessive, type IIIA for gene: ALDH18A1",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:08.736033+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Analbuminemia for gene: ALB",
"entity_name": "ALB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:08.442253+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, sideroblastic, X-linked for gene: ALAS2",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:08.146100+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:07.631102+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia for gene: AIRE",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:07.338834+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cowchock syndrome for gene: AIFM1",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:07.060257+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-3 for gene: AHI1",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:06.742112+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hyperoxaluria, primary, type 1 for gene: AGXT",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:06.447055+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Myasthenia, limb-girdle, familial for gene: AGRN",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:06.140867+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Glycogen storage disease IIIa for gene: AGL",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:05.847425+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Aspartylglucosaminuria for gene: AGA",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:05.549727+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypermethioninemia due to adenosine kinase deficiency for gene: ADK",
"entity_name": "ADK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:05.317443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:04.751436+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Aicardi-Goutieres syndrome for gene: ADAR",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:04.450384+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Geleophysic dysplasia 1 for gene: ADAMTSL2",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:04.147656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:03.854242+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Severe combined immunodeficiency due to ADA deficiency for gene: ADA",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:03.555756+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:03.248532+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Fibrodysplasia ossificans progressiva for gene: ACVR1",
"entity_name": "ACVR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:02.955469+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Glomerulosclerosis, focal segmental, 1 for gene: ACTN4",
"entity_name": "ACTN4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:02.717436+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Macrothrombocytopenia for gene: ACTN1",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:02.424869+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Megacystis-microcolon-intestinal hypoperistalsis syndrome for gene: ACTG2",
"entity_name": "ACTG2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:02.126954+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Baraitser-Winter syndrome for gene: ACTG1",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:01.540738+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 dominant for gene: ACTG1",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:01.243578+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Baraitser-Winter syndrome for gene: ACTB",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:00.941653+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: ACTA1",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:00.646784+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Combined malonic and methylmalonic aciduria for gene: ACSF3",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:00.351805+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Peroxisomal acyl-CoA oxidase deficiency for gene: ACOX1",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:59:00.092235+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Renal tubular dysgenesis for gene: ACE",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:59.751994+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:59.453340+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes VLCAD deficiency for gene: ACADVL",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:59.218866+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Medium chain acyl CoA dehydrogenase deficiency for gene: ACADM",
"entity_name": "ACADM",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:58.923524+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes ACAD9 deficiency for gene: ACAD9",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:58.347368+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Isobutyryl-CoA dehydrogenase deficiency for gene: ACAD8",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:58.053873+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Sitosterolemia for gene: ABCG5",
"entity_name": "ABCG5",
"entity_type": "gene"
}
]
}