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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1839",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1837",
"results": [
{
"created": "2020-04-19T21:00:51.243284+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARS2 was added\ngene: RARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:50.542058+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARS was added\ngene: RARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:49.543909+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:48.734511+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:48.021539+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG2 was added\ngene: RAG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:46.932419+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:46.143885+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD50 was added\ngene: RAD50 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:45.337736+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:44.260800+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:43.661277+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB39B was added\ngene: RAB39B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:42.864823+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB33B was added\ngene: RAB33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:41.856180+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB27A was added\ngene: RAB27A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:41.223992+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:40.522875+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB18 was added\ngene: RAB18 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:39.844313+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:38.851769+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QARS was added\ngene: QARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:38.150471+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYROXD1 was added\ngene: PYROXD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:37.447753+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYCR2 was added\ngene: PYCR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:36.350439+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:35.642448+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PXDN was added\ngene: PXDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:34.944589+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS1 was added\ngene: PUS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:33.952905+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:33.261040+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:32.539555+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSPH was added\ngene: PSPH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:31.452716+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:30.751940+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:30.045877+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:29.048013+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRX was added\ngene: PRX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:28.342966+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:27.561334+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:26.549668+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROS1 was added\ngene: PROS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:25.851879+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:25.153214+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROC was added\ngene: PROC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:24.153053+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRICKLE1 was added\ngene: PRICKLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:23.546023+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRG4 was added\ngene: PRG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:22.750496+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:21.748551+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM5 was added\ngene: PRDM5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:21.031690+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRDM12 was added\ngene: PRDM12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:20.345287+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:19.628923+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:18.660347+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPA2 was added\ngene: PPA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:17.992052+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PGAP1 as ready",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:17.978231+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pgap1 has been classified as Red List (Low Evidence).",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:17.946684+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:17.248673+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:16.261411+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POP1 was added\ngene: POP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:15.562976+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:14.851696+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:14.282386+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PGAP1 as Red List (low evidence)",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:14.273895+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pgap1 has been classified as Red List (Low Evidence).",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:13.750643+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMP was added\ngene: POMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)",
"entity_name": "POMP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:13.140109+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMK was added\ngene: POMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:12.349785+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT2 was added\ngene: POMGNT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:11.346627+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:10.647989+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMC was added\ngene: POMC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)",
"entity_name": "POMC",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:09.950160+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:09.244893+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:08.249048+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1C was added\ngene: POLR1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:07.553364+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:06.850812+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLA1 was added\ngene: POLA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: POLA1 were set to Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3), X-linked recessive",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:05.843097+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC1A was added\ngene: POC1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:05.119731+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPO was added\ngene: PNPO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:04.450448+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:03.835927+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: None; Publications: 24482476; Phenotypes: Mental retardation, autosomal recessive MIM#42; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:03.446539+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNP was added\ngene: PNP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:02.743588+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:02.021806+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMPCA was added\ngene: PMPCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:00.927398+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:00:00.109692+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLPBP was added\ngene: PLPBP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:59.343655+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:58.344565+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:57.548153+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:56.854019+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:56.142322+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:55.160173+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCE1 was added\ngene: PLCE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:54.446882+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLAA was added\ngene: PLAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:53.761034+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:52.848054+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:52.148700+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:51.347219+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIP5K1C was added\ngene: PIP5K1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, 611369 (3)",
"entity_name": "PIP5K1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:50.640630+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIH1D3 was added\ngene: PIH1D3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:49.645606+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGV was added\ngene: PIGV was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:48.951209+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGT was added\ngene: PIGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:48.249717+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGO was added\ngene: PIGO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:47.250682+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:46.524017+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGL was added\ngene: PIGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:45.731258+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGG was added\ngene: PIGG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:44.721877+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:44.021704+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:43.247571+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease, 266500 (3)",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:42.547108+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:41.544664+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF8 was added\ngene: PHF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:40.833331+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:40.137131+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM3 was added\ngene: PGM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:39.046996+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:38.261745+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:37.525469+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP3 was added\ngene: PGAP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:36.743366+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP2 was added\ngene: PGAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:35.751293+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:35.040527+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)",
"entity_name": "PFKM",
"entity_type": "gene"
}
]
}