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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1642",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1640",
"results": [
{
"created": "2020-08-27T21:02:33.727080+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1A was added\ngene: SCN1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCN1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCN1A were set to Dravet syndrome",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:33.418799+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN11A was added\ngene: SCN11A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN11A were set to Episodic pain syndrome",
"entity_name": "SCN11A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:33.049588+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SBDS were set to Shwachman-Bodian-Diamond syndrome",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:32.745328+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:32.438560+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SALL1 was added\ngene: SALL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SALL1 were set to Townes-Brocks syndrome",
"entity_name": "SALL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:32.135437+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:31.441975+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: RYR2",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:31.135932+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR2 was added\ngene: RYR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:30.645738+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Multiminicore disease for gene: RYR1",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:29.943360+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 RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Centronuclear myopathy for gene: RYR1",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:29.636826+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR1 were set to Central core disease",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:29.335139+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUNX2 was added\ngene: RUNX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RUNX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RUNX2 were set to Cleidocranial dysostosis",
"entity_name": "RUNX2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:29.028206+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:28.723784+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:28.419719+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RS1 was added\ngene: RS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RS1 were set to Retinoschisis, X linked",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:27.835217+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:27.536326+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:27.223150+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS26 were set to Diamond-Blackfan anemia",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:26.854072+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS24 were set to Diamond-Blackfan anemia",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:26.546578+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS19 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anemia",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:26.247693+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anemia",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:25.718857+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS15 was added\ngene: RPS15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPS15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPS15 were set to Diamond-Blackfan anemia",
"entity_name": "RPS15",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:25.355179+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan anemia",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:25.059562+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:24.639272+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: RPGRIP1L",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:24.327658+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:23.740960+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPGR were set to Retinitis pigmentosa",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:23.318853+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 ROR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Brachydactyly, type B1 for gene: ROR2",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:22.954417+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow syndrome",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:22.646359+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:22.129596+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:21.827321+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:21.524688+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:21.049676+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Multiple endocrine neoplasia IIB for gene: RET",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:20.745587+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIA",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:20.223349+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REN was added\ngene: REN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REN were set to Renal tubular dysgenesis",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:19.743656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Rothmund-Thomson syndrome for gene: RECQL4",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:19.325984+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Rapadilino syndrome for gene: RECQL4",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:19.020656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Baller-Gerold syndrome",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:18.437437+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:18.141391+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RB1 was added\ngene: RB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Retinoblastoma",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:17.835036+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:17.535069+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Congenital myasthenic syndrome",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:17.046819+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Potocki-Lupski syndrome for gene: RAI1",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:16.530889+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAI1 were set to Smith-Magenis syndrome",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:16.228793+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG2 was added\ngene: RAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG2 were set to Omenn syndrome",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:15.927207+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Omenn syndrome",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:15.653340+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAF1 were set to Noonan syndrome",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:15.326397+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB7A was added\ngene: RAB7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease",
"entity_name": "RAB7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:15.034160+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:14.722177+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB27A was added\ngene: RAB27A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:14.145317+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:13.845182+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Dihydropteridine reductase deficiency",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:13.544973+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGL was added\ngene: PYGL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGL were set to Glycogen storage disease VI",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:13.244989+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:12.945020+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:12.653360+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:12.136936+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:11.725556+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Bannayan-Riley-Ruvalcaba syndrome for gene: PTEN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:11.424395+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Cowden disease",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:11.124356+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:10.824593+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:10.242292+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRX was added\ngene: PRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Charcot-Marie-Tooth disease",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:09.945652+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROS1 was added\ngene: PROS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROS1 were set to Protein S deficiency",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:09.645419+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:09.351064+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROKR2 was added\ngene: PROKR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:09.048780+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PROC was added\ngene: PROC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "PROC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:08.745505+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Carney complex",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:08.232976+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:07.932356+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:07.634939+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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 Mental retardation",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:07.331223+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Neuronal ceroid lipofuscinosis",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:07.023549+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU4F3 was added\ngene: POU4F3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU4F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POU4F3 were set to Deafness, autosomal dominant",
"entity_name": "POU4F3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:06.721952+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU3F4 was added\ngene: POU3F4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU3F4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: POU3F4 were set to Deafness, X-linked",
"entity_name": "POU3F4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:06.139258+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:05.840243+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PORCN were set to Focal dermal hypoplasia",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:05.541088+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:05.240187+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:04.832471+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Walker-Warburg syndrome for gene: POMT1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:04.534368+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:03.842935+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-dystroglycanopathy (limb-girdle), type C, 3 for gene: POMGNT1",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:03.540685+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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)",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:03.240348+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLH was added\ngene: POLH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLH were set to Xeroderma pigmentosum",
"entity_name": "POLH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:02.941230+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:02.642206+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPO was added\ngene: PNPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:02.137441+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly - seizures - developmental delay",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:01.830742+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKD was added\ngene: PNKD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia",
"entity_name": "PNKD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:01.524468+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMP22 was added\ngene: PMP22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease",
"entity_name": "PMP22",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:01.227062+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:00.817445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Spastic paraplegia 2, X-linked for gene: PLP1",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:00.520519+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:02:00.224178+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, kyphoscoliotic type",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:59.638268+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:59.235747+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 for gene: PLEC",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:58.935070+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Epidermolysis bullosa simplex",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:58.639631+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCE1 was added\ngene: PLCE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to Nephrotic syndrome",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:58.341517+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:58.047820+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:57.535038+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\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",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:57.239561+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD2 was added\ngene: PKD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKD2 were set to Polycystic kidney disease",
"entity_name": "PKD2",
"entity_type": "gene"
}
]
}