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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1634",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1632",
"results": [
{
"created": "2020-08-27T21:09:50.630041+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR35 was added\ngene: WDR35 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Cranioectodermal dysplasia",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:50.060200+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR19 was added\ngene: WDR19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were set to Nephronophthisis",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:49.242087+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VSX1 was added\ngene: VSX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: VSX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VSX1 were set to Keratoconus",
"entity_name": "VSX1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:48.728887+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS53 was added\ngene: VPS53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:47.933490+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VAMP1 were set to Spastic ataxia",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:47.345168+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRQ was added\ngene: UQCRQ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:46.832945+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UQCRB was added\ngene: UQCRB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UQCRB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRB were set to Mitochondrial complex III deficiency",
"entity_name": "UQCRB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:46.036901+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A5 was added\ngene: UGT1A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UGT1A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A5 were set to UDP glucuronosyltransferase deficiency",
"entity_name": "UGT1A5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:45.446968+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A4 was added\ngene: UGT1A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome",
"entity_name": "UGT1A4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:44.723648+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UCP2 was added\ngene: UCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: UCP2 were set to Hyperinsulinism",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:44.141093+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBA1 was added\ngene: UBA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:43.340477+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TUBA8 was added\ngene: TUBA8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:42.826103+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were set to Bardet-Biedl syndrome",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:42.034056+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPYL1 was added\ngene: TSPYL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:41.446879+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSPEAR was added\ngene: TSPEAR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPEAR were set to Sensorineural deafness",
"entity_name": "TSPEAR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:40.646521+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:40.136014+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM2 was added\ngene: TRPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRPM2 were set to ALS and Parkinson's disease",
"entity_name": "TRPM2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:39.339185+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP11 was added\ngene: TRIP11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP11 were set to Achondrogenesis type 1A",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:38.818726+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRHR was added\ngene: TRHR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:38.022239+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRH was added\ngene: TRH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency",
"entity_name": "TRH",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:37.440416+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:36.926084+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPRN was added\ngene: TPRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPRN were set to Deafness, autosomal recessive",
"entity_name": "TPRN",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:36.049253+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:35.526255+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPO was added\ngene: TMPO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TMPO were set to Cardiomyopathy, dilated",
"entity_name": "TMPO",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:34.728937+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:33.627759+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: TMEM216",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:33.049092+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:32.247123+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMC8 was added\ngene: TMC8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMC8 were set to Epidermodysplasia verruciformi",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:31.739717+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TJP2 was added\ngene: TJP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TJP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TJP2 were set to Hypercholanemia, familial",
"entity_name": "TJP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:31.225967+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBS1 was added\ngene: THBS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THBS1 were set to Pulmonary hypertension",
"entity_name": "THBS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:30.427307+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THBD was added\ngene: THBD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: THBD were set to Haemolytic uraemic syndrome",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:29.835741+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGIF1 was added\ngene: TGIF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGIF1 were set to Holoprosencephaly-4",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:29.038764+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR3 was added\ngene: TGFBR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TGFBR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR3 were set to Premature ovarian failure",
"entity_name": "TGFBR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:28.521991+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:27.725927+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB1 were set to Camurati-Engelmann disease",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:27.147038+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFR2 was added\ngene: TFR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TFR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TFR2 were set to Hemochromatosis type 3",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:26.420586+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:25.843485+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN1 were set to Joubert syndrome",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:24.750761+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 C gene was added to TCAP.\nSource Expert Review Red was added to TCAP.\nAdded phenotypes Cardiomyopathy, dilated for gene: TCAP\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "TCAP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:24.226091+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX20 was added\ngene: TBX20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX20 were set to Congenital heart disease",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:23.434313+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:22.920717+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TARDBP was added\ngene: TARDBP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10",
"entity_name": "TARDBP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:22.125896+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:21.547747+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYT14 was added\ngene: SYT14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11",
"entity_name": "SYT14",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:20.823175+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNE4 was added\ngene: SYNE4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYNE4 were set to Hearing loss",
"entity_name": "SYNE4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:20.242794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAC3 was added\ngene: STAC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAC3 were set to Myopathy, Native American",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:19.750179+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to Amish infantile epilepsy syndrome",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:18.939674+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST14 was added\ngene: ST14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:18.427835+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC2 was added\ngene: SPTLC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC",
"entity_name": "SPTLC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:17.635550+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPEG was added\ngene: SPEG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPEG were set to Centronuclear myopathy with dilated cardiomyopathy",
"entity_name": "SPEG",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:17.118754+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP7 was added\ngene: SP7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:16.321792+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:15.754709+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOD1 was added\ngene: SOD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis",
"entity_name": "SOD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:14.945008+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:14.440718+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SMO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMO were set to Medulloblastoma",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:13.929803+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD9 was added\ngene: SMAD9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:13.140332+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD6 was added\ngene: SMAD6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:12.629732+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMAD1 was added\ngene: SMAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension",
"entity_name": "SMAD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:11.833605+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLCO1B3 was added\ngene: SLCO1B3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLCO1B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO1B3 were set to Hyperbilirubinemia, Rotor type, digenic",
"entity_name": "SLCO1B3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:11.318703+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLCO1B1 was added\ngene: SLCO1B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLCO1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLCO1B1 were set to Hyperbilirubinemia, Rotor type, digenic",
"entity_name": "SLCO1B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:10.523286+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC9A3R1 was added\ngene: SLC9A3R1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2",
"entity_name": "SLC9A3R1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:09.942632+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A2 was added\ngene: SLC6A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC6A2 were set to Orthostatic intolerance",
"entity_name": "SLC6A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:09.218744+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A19 was added\ngene: SLC6A19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A19 were set to Hartnup disorder",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:08.646336+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:07.918809+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A10 was added\ngene: SLC4A10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:07.346101+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC41A1 was added\ngene: SLC41A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC41A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC41A1 were set to Parkinson disease, idiopathic",
"entity_name": "SLC41A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:06.836310+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35C1 was added\ngene: SLC35C1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC35C1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35C1 were set to Congenital disorder of glycosylation 2c",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:06.051955+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:05.542932+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A1 was added\ngene: SLC35A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35A1 were set to CDG syndrome type IIf",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:04.446308+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 SLC33A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Spastic paraplegia, autosomal dominant for gene: SLC33A1",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:03.938579+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC33A1 was added\ngene: SLC33A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss and low serum copper and ceruloplasmin",
"entity_name": "SLC33A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:03.143527+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC27A5 was added\ngene: SLC27A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC27A5 were set to Bile acid amidation defect",
"entity_name": "SLC27A5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:02.635196+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A22 was added\ngene: SLC25A22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:01.838330+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A12 was added\ngene: SLC25A12 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A12 were set to Hypomyelination, global cerebral",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:01.322386+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A12 was added\ngene: SLC16A12 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria",
"entity_name": "SLC16A12",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:09:00.520502+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A1 was added\ngene: SLC16A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:59.927351+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A5 was added\ngene: SLC12A5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC12A5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC12A5 were set to Febrile seizures",
"entity_name": "SLC12A5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:59.140077+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC11A2 was added\ngene: SLC11A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SLC11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC11A2 were set to Anemia, hypochromic microcytic",
"entity_name": "SLC11A2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:58.630771+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX5 was added\ngene: SIX5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX5 were set to Branchiootorenal syndrome",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:58.047109+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX2 was added\ngene: SIX2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SIX2 were set to Renal hypodysplasia",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:57.330879+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:56.821823+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH3BP2 was added\ngene: SH3BP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SH3BP2 were set to Cherubism",
"entity_name": "SH3BP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:55.739730+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 C gene was added to SGCD.\nSource Expert Review Red was added to SGCD.\nAdded phenotypes Cardiomyopathy, dilated for gene: SGCD\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:55.148445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPC was added\ngene: SFTPC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SFTPC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SFTPC were set to Interstitial lung disease",
"entity_name": "SFTPC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:54.429419+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SFTPA2 was added\ngene: SFTPA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic",
"entity_name": "SFTPA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:53.922978+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPIND1 was added\ngene: SERPIND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:53.135795+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINC1 was added\ngene: SERPINC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:52.634987+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINB6 was added\ngene: SERPINB6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SERPINB6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINB6 were set to Deafness, autosomal recessive",
"entity_name": "SERPINB6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:51.841455+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINA1 was added\ngene: SERPINA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINA1 were set to Antitrypsin alpha 1 deficiency",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:51.337606+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA3A was added\ngene: SEMA3A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SEMA3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEMA3A were set to Kallmann syndrome 1",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:50.618972+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC63 was added\ngene: SEC63 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SEC63 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SEC63 were set to Polycystic liver disease",
"entity_name": "SEC63",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:50.053689+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCP2 was added\ngene: SCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:49.543445+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCO1 was added\ngene: SCO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder",
"entity_name": "SCO1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:48.820551+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:47.740056+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 C gene was added to SCNN1B.\nSource Expert Review Red was added to SCNN1B.\nMode of inheritance for gene SCNN1B was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Liddle syndrome for gene: SCNN1B\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:47.226094+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN4B was added\ngene: SCN4B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCN4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN4B were set to Long QT syndrome",
"entity_name": "SCN4B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:46.138057+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 C gene was added to SCN4A.\nSource Expert Review Red was added to SCN4A.\nAdded phenotypes Hypokalemic periodic paralysis, type 2 for gene: SCN4A\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:45.618716+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN3B was added\ngene: SCN3B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCN3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN3B were set to Brugada syndrome",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:44.820662+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN2B was added\ngene: SCN2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN2B were set to Atrial fibrillation",
"entity_name": "SCN2B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:08:44.248127+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN1B was added\ngene: SCN1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red\nMode of inheritance for gene: SCN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN1B were set to Brugada syndrome",
"entity_name": "SCN1B",
"entity_type": "gene"
}
]
}