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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=759",
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{
"created": "2022-09-19T07:29:15.094531+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:14.697161+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:14.304043+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:13.702822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VCP was added\ngene: VCP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:13.314815+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VCAN was added\ngene: VCAN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:12.993441+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VAMP1 was added\ngene: VAMP1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25, MIM# 618323",
"entity_name": "VAMP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:12.634387+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:11.918214+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1G was added\ngene: USH1G was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:11.519434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:10.901772+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROS was added\ngene: UROS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:10.512157+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UROD was added\ngene: UROD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:10.117756+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UNC13D was added\ngene: UNC13D was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:09.517858+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UMOD was added\ngene: UMOD was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:09.199381+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:08.799516+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UCP2 was added\ngene: UCP2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: UCP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: UCP2 were set to Hyperinsulinism, ORPHA:276556",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:08.201088+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBR1 was added\ngene: UBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:07.811399+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE2T were set to Fanconi anaemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:07.419627+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:06.801125+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:06.425425+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:06.090956+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TWIST1 was added\ngene: TWIST1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:05.439861+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:05.028103+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:04.615571+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC7A was added\ngene: TTC7A was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#243150",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:04.017390+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:03.615490+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTC21B was added\ngene: TTC21B was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC21B were set to 25492405; 33875766; 18327258; 21258341\nPhenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Nephronophthisis 12, MIM# 613820",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:03.290948+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSR2 was added\ngene: TSR2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TSR2 were set to Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:02.607479+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:02.220679+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSHB was added\ngene: TSHB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:01.794662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:29:01.110389+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:00.715290+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\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, MIM#191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:00.317986+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM4 was added\ngene: TRPM4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:59.709344+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMU was added\ngene: TRMU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:59.329013+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIOBP was added\ngene: TRIOBP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:59.004760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:58.396405+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:58.006867+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:57.605052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC2 was added\ngene: TRAPPC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:57.002369+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:56.605884+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPO was added\ngene: TPO was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:56.237613+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM3 was added\ngene: TPM3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM3 were set to Nemaline myopathy; Congenital fiber-type disproportion myopathy",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:55.601539+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM2 was added\ngene: TPM2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM2 were set to Nemaline myopathy; Arthrogryposis multiplex congenita, distal",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:55.206620+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:54.813695+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT3 was added\ngene: TNNT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:54.287613+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT1 was added\ngene: TNNT1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:53.902937+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNI2 was added\ngene: TNNI2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:53.508541+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFSF11 was added\ngene: TNFSF11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:53.194785+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11B was added\ngene: TNFRSF11B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:52.593269+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7 - MIM# 612301",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:52.203018+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS3 was added\ngene: TMPRSS3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:51.800423+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMIE was added\ngene: TMIE was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:51.198444+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome; Meckel syndrome",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:50.801803+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM43 was added\ngene: TMEM43 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:50.419434+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMC1 was added\ngene: TMC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:49.813437+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:49.488533+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:49.102680+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRB was added\ngene: THRB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:48.505004+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THRA was added\ngene: THRA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:48.194585+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:47.803339+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGM5 was added\ngene: TGM5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:47.215448+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGM1 was added\ngene: TGM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:46.810333+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:46.499282+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:45.888654+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TG was added\ngene: TG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:45.500465+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFG was added\ngene: TFG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:45.117099+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2B was added\ngene: TFAP2B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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": "2022-09-19T07:28:44.509827+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TFAP2A was added\ngene: TFAP2A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\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"
},
{
"created": "2022-09-19T07:28:44.188518+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TECTA was added\ngene: TECTA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TECTA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECTA were set to Deafness",
"entity_name": "TECTA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:43.800330+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCOF1 was added\ngene: TCOF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCOF1 were set to Treacher Collins syndrome 1",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:43.204136+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, infantile malignant",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:42.812090+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:42.494822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF3 was added\ngene: TCF3 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: TCF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TCF3 were set to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:41.892672+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX19 was added\ngene: TBX19 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency, MIM#201400",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:41.502198+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX5 was added\ngene: TBX5 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:41.109640+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX1 was added\ngene: TBX1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX1 were set to DiGeorge syndrome",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:40.523123+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:40.197709+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAZ were set to Barth syndrome, MIM#302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:39.804390+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAT was added\ngene: TAT was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAT were set to Tyrosinemia, type II, MIM#276600",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:39.400182+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:38.807718+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUOX was added\ngene: SUOX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUOX were set to Sulphite oxidase deficiency",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:38.498668+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLG1 was added\ngene: SUCLG1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:38.115194+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:37.514360+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Haemophagocytic lymphohistiocytosis, MIM#613101",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:37.128348+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STXBP1 was added\ngene: STXBP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:36.800258+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX11 was added\ngene: STX11 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:36.213932+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STS was added\ngene: STS was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to Ichthyosis, X-linked",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:35.834116+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRC was added\ngene: STRC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRC were set to Deafness, autosomal recessive",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:35.495385+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRA6 was added\ngene: STRA6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRA6 were set to Microphthalmia, syndromic",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:34.897874+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STK11 was added\ngene: STK11 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STK11 were set to Peutz-Jeghers syndrome",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:34.508751+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT3 was added\ngene: STAT3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:34.187748+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAR was added\ngene: STAR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia, MIM#201710",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:33.515971+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAC3 was added\ngene: STAC3 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAC3 were set to 28411587; 30168660; 23736855; 28777491\nPhenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch, MIM# 255995",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:33.201775+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP54 was added\ngene: SRP54 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SRP54 were set to Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:32.812425+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRCAP was added\ngene: SRCAP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SRCAP were set to Floating-Harbor syndrome",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:32.310995+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTLC1 was added\ngene: SPTLC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:31.914562+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTB was added\ngene: SPTB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTB were set to Spherocytosis",
"entity_name": "SPTB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:31.513506+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTA1 was added\ngene: SPTA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTA1 were set to Elliptocytosis",
"entity_name": "SPTA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:31.196196+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPRED1 were set to Legius syndrome",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:28:30.610801+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Sepiapterin reductase deficiency",
"entity_name": "SPR",
"entity_type": "gene"
}
]
}