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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1640",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1638",
"results": [
{
"created": "2020-08-27T21:03:56.318719+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSRP3 was added\ngene: CSRP3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12",
"entity_name": "CSRP3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:55.450460+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category B gene was added to CRYAB.\nSource Expert Review Amber was added to CRYAB.\nAdded phenotypes Cardiomyopathy, dilated for gene: CRYAB\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:55.049032+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Aceruloplasminaemia",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:54.720546+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN2A was added\ngene: CDKN2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN2A were set to Melanoma",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:54.333147+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH1 was added\ngene: CDH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDH1 were set to Gastric cancer",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:53.728556+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1C was added\ngene: CACNA1C was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1C were set to Brugada syndrome",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:53.336766+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:52.948082+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BAG3 was added\ngene: BAG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAG3 were set to Cardiomyopathy, dilated",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:52.341203+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD1 was added\ngene: ANKRD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD1 were set to Cardiomyopathy, dilated",
"entity_name": "ANKRD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:51.947604+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANK2 was added\ngene: ANK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANK2 were set to Long QT syndrome",
"entity_name": "ANK2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:51.626989+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIP was added\ngene: AIP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AIP were set to Pituitary adenoma",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:51.235575+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN2 was added\ngene: ACTN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:50.346179+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cardiomyopathy, familial hypertrophic for gene: ACTC1",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:50.025112+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTC1 was added\ngene: ACTC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:49.635497+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:48.835306+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category B gene was added to ABCC9.\nSource Expert Review Amber was added to ABCC9.\nAdded phenotypes Cardiomyopathy, dilated for gene: ABCC9\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:48.426003+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF469 was added\ngene: ZNF469 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:48.037722+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:47.640933+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to Heterotaxy",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:47.037297+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZIC2 were set to Holoprosencephaly-5",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:46.639768+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:46.246964+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZAP70 was added\ngene: ZAP70 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:45.921912+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPC was added\ngene: XPC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to Xeroderma pigmentosum",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:45.248167+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:44.735643+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Frasier syndrome for gene: WT1",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:44.341343+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WT1 were set to Denys-Drash syndrome",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:43.742731+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:43.343970+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WNT10A was added\ngene: WNT10A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WNT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WNT10A were set to Ectodermal dysplasia",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:42.949599+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Wolfram syndrome",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:42.348746+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR62 was added\ngene: WDR62 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:42.025928+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Wiskott-Aldrich syndrome",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:41.638521+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:41.243494+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:40.920791+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13A was added\ngene: VPS13A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:40.245577+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:39.921940+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:39.535763+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VHL were set to von Hippel-Lindau syndrome",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:39.142077+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VDR were set to Vitamin D-dependent rickets",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:38.748373+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:38.143572+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VCAN was added\ngene: VCAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: VCAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCAN were set to Wagner syndrome",
"entity_name": "VCAN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:37.821826+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Usher syndrome 2",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:37.435034+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1G was added\ngene: USH1G was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1G were set to Usher syndrome 1",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:37.046368+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome 1",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:36.726133+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROS was added\ngene: UROS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:36.123141+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROD was added\ngene: UROD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic",
"entity_name": "UROD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:35.736237+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC13D was added\ngene: UNC13D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:35.348783+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UMOD was added\ngene: UMOD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: UMOD were set to Nephropathy",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:35.025148+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:34.420505+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR1 was added\ngene: UBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:34.040691+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Albinism, oculocutaneous 1",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:33.644187+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:33.323089+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWIST1 was added\ngene: TWIST1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome",
"entity_name": "TWIST1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:32.717446+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:32.333769+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:31.946108+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTN were set to Centronuclear myopathy",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:31.624630+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC7A was added\ngene: TTC7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:31.239329+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:30.639761+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHR were set to Hypothyroidism",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:30.258490+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHB was added\ngene: TSHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:29.934947+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:29.334454+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC2 were set to Tuberous sclerosis 2",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:28.948508+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC1 were set to Tuberous sclerosis 1",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:28.630698+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM4 was added\ngene: TRPM4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPM4 were set to Cardiac conduction disease",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:28.242696+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMU was added\ngene: TRMU was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMU were set to Liver failure, transient infantile",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:27.636270+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIOBP was added\ngene: TRIOBP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRIOBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIOBP were set to Deafness, autosomal recessive",
"entity_name": "TRIOBP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:27.258306+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism syndrome",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:26.935713+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:26.548993+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:26.235163+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC2 was added\ngene: TRAPPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:25.635973+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:25.256471+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPO was added\ngene: TPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:24.745029+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital fiber-type disproportion myopathy for gene: TPM3",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:24.139486+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM3 was added\ngene: TPM3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM3 were set to Nemaline myopathy",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:23.631793+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Arthrogryposis multiplex congenita, distal for gene: TPM2",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:23.242351+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM2 was added\ngene: TPM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM2 were set to Nemaline myopathy",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:22.928926+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Li-Fraumeni syndrome",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:22.327132+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT3 was added\ngene: TNNT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNT3 were set to Arthyrgryposis, distal",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:21.940073+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT1 was added\ngene: TNNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:21.627754+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNI2 was added\ngene: TNNI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b",
"entity_name": "TNNI2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:21.037502+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF11 was added\ngene: TNFSF11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:20.650230+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:20.334847+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS3 was added\ngene: TMPRSS3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TMPRSS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMPRSS3 were set to Deafness, autosomal recessive",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:19.948695+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMIE was added\ngene: TMIE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TMIE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMIE were set to Deafness, autosomal recessive",
"entity_name": "TMIE",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:19.228261+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Meckel syndrome for gene: TMEM67",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:18.840037+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:18.524225+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM43 was added\ngene: TMEM43 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:17.930812+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMC1 was added\ngene: TMC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TMC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMC1 were set to Deafness",
"entity_name": "TMC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:17.533436+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:17.139005+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:16.818741+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRB was added\ngene: THRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THRB were set to Thyroid hormone resistance",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:16.218768+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRA was added\ngene: THRA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:15.843388+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Tyrosine hydroxylase deficiency",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:15.452093+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGM5 was added\ngene: TGM5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TGM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGM5 were set to Peeling skin syndrome, acral type",
"entity_name": "TGM5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:15.138186+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGM1 was added\ngene: TGM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:14.747495+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:14.146320+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:13.832388+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TG was added\ngene: TG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TG were set to Thyroid dyshormonogenesis 3",
"entity_name": "TG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:13.447322+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFG was added\ngene: TFG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy",
"entity_name": "TFG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:13.136886+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2B was added\ngene: TFAP2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2B were set to Char syndrome",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:03:12.537011+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2A was added\ngene: TFAP2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2A were set to Branchiooculofacial syndrome",
"entity_name": "TFAP2A",
"entity_type": "gene"
}
]
}