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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=758",
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"results": [
{
"created": "2022-09-19T07:30:07.320421+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH4A1 was added\ngene: ALDH4A1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II",
"entity_name": "ALDH4A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:06.907371+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDH1A2 was added\ngene: ALDH1A2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ALDH1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ALDH1A2 were set to Tetralogy of Fallot",
"entity_name": "ALDH1A2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:06.223701+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT3 was added\ngene: AKT3 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:05.807830+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKT2 were set to Severe insulin resistance and diabetes mellitus",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:05.402772+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKAP9 was added\ngene: AKAP9 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AKAP9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AKAP9 were set to Long QT syndrome",
"entity_name": "AKAP9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:04.443625+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK1 was added\ngene: AK1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK1 were set to Hemolytic anemia due to adenylate kinase deficiency",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:04.004908+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AHSP was added\ngene: AHSP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHSP were set to Thalassaemia",
"entity_name": "AHSP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:03.519459+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTR1 was added\ngene: AGTR1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGTR1 were set to Renal tubular dysgenesis",
"entity_name": "AGTR1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:02.732207+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGT was added\ngene: AGT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:02.030286+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPS was added\ngene: AGPS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Rhizomelic chondrodysplasia punctata, type 3",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:01.018056+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS2 was added\ngene: ADAMTS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome VIIc",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:00.609472+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAM17 was added\ngene: ADAM17 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAM17 were set to Neonatal inflammatory skin and bowel disease",
"entity_name": "ADAM17",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:30:00.197667+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACVR2B was added\ngene: ACVR2B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACVR2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACVR2B were set to Left-right axis malformation",
"entity_name": "ACVR2B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:59.514139+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN2 was added\ngene: ACTN2 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:59.032485+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTC1 was added\ngene: ACTC1 was added to gNBS. Sources: Expert Review Red,BabySeq Category B gene,BabySeq Category C gene\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTC1 were set to Atrial septal defect; Cardiomyopathy, familial hypertrophic; Left ventricular noncompaction; Cardiomyopathy, dilated",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:58.609578+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTB was added\ngene: ACTB was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome; Neutrophil dysfunction and recurrent infection",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:58.002976+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA1 was added\ngene: ACTA1 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA1 were set to Nemaline myopathy; Congenital myopathy with fiber type disproportion",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:57.596679+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACSF3 was added\ngene: ACSF3 was added to gNBS. Sources: Expert Review Red,BabySeq Category A gene\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSF3 were set to 21841779; 30740739\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:56.917838+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACO2 was added\ngene: ACO2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:56.526269+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACBD5 was added\ngene: ACBD5 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACBD5 were set to Thrombocytopaenia",
"entity_name": "ACBD5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:56.116458+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADSB was added\ngene: ACADSB was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:55.519823+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADS was added\ngene: ACADS was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of 201470",
"entity_name": "ACADS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:55.110227+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACADL was added\ngene: ACADL was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADL were set to Sudden infant death",
"entity_name": "ACADL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:54.217997+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Red was added to ABCD4.\nSource BabySeq Category C gene was added to ABCD4.\nAdded phenotypes Methylmalonic aciduria and homocystinuria, cblJ type for gene: ABCD4\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:53.808754+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC9 was added\ngene: ABCC9 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Red,BabySeq Category A gene,BabySeq Category C gene\nMode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCC9 were set to Atrial fibrillation, familial; Cardiomyopathy, dilated; Hypertrichotic osteochondrodysplasia",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:53.401584+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to Sideroblastic anaemia and ataxia",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:52.795935+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABAT was added\ngene: ABAT was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABAT were set to GABA-transaminase deficiency",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:52.402084+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AARS2 was added\ngene: AARS2 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:51.997124+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WT1 were set to Denys-Drash syndrome; Wilms tumor, type 1; Frasier syndrome",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:51.310808+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VWF was added\ngene: VWF was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: VWF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VWF were set to von Willebrand disease",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:50.912653+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VCL was added\ngene: VCL was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VCL were set to Cardiomyopathy, dilated",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:50.301187+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTN were set to Centronuclear myopathy; Cardiomyopathy, dilated",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:49.897265+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TPM1 was added\ngene: TPM1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:49.494815+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT2 was added\ngene: TNNT2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNT2 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:48.845426+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNI3 was added\ngene: TNNI3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNI3 were set to Familial hypertrophic cardiomyopathy; Cardiomyopathy, dilated",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:48.432079+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNC1 was added\ngene: TNNC1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:48.016727+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TINF2 were set to Dyskeratosis congenita",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:47.413317+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TERT were set to Dyskeratosis congenita",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:46.999822+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TERC were set to Dyskeratosis congenita",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:46.595003+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNTA1 was added\ngene: SNTA1 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SNTA1 were set to Long QT syndrome",
"entity_name": "SNTA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:45.913055+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:45.515216+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:44.906002+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDHAF2 was added\ngene: SDHAF2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:44.319106+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Amber was added to SCN5A.\nSource BabySeq Category B gene was added to SCN5A.\nMode of inheritance for gene SCN5A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Long QT syndrome; Brugada syndrome for gene: SCN5A\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:43.899229+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM20 was added\ngene: RBM20 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:43.204157+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:42.800378+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHOX2B was added\ngene: PHOX2B was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PHOX2B were set to Central hypoventilation syndrome",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:42.108726+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCSK9 was added\ngene: PCSK9 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PCSK9 were set to Hypercholesterolemia",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:41.714628+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-5 was added\ngene: NKX2-5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NKX2-5 were set to Congenital heart disease",
"entity_name": "NKX2-5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:41.388548+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYLK was added\ngene: MYLK was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:40.706067+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL3 was added\ngene: MYL3 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:40.301355+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYL2 was added\ngene: MYL2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:39.901027+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH11 was added\ngene: MYH11 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:39.290097+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:38.689845+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MCCC1.\nSource BabySeq Category B gene was added to MCCC1.\nAdded phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency for gene: MCCC1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "MCCC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:38.009600+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMNA were set to Charcot-Marie-Tooth disease; Emery-Dreifuss muscular dystrophy 2; Dilated cardiomyopathy",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:37.659035+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to gNBS. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926\nPhenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:36.993876+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category B gene was added to KCNQ1.\nSource Expert Review Amber was added to KCNQ1.\nSource BabySeq Category A gene was added to KCNQ1.\nMode of inheritance for gene KCNQ1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Jervell and Lange-Nielsen syndrome; Long QT syndrome-1 for gene: KCNQ1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:36.302985+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNH2 was added\ngene: KCNH2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNH2 were set to Long QT syndrome-2",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:35.902295+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE2 was added\ngene: KCNE2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: KCNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE2 were set to Long QT syndrome-6",
"entity_name": "KCNE2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:35.300713+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: KCNE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNE1 were set to Long QT syndrome-5; Jervell and Lange-Nielsen syndrome",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:34.898516+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA5 was added\ngene: KCNA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA5 were set to Atrial fibrillation",
"entity_name": "KCNA5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:34.500730+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12; Naxos disease",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:33.819396+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPD1L was added\ngene: GPD1L was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: GPD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GPD1L were set to Brugada syndrome",
"entity_name": "GPD1L",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:33.492958+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA5 was added\ngene: GJA5 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA5 were set to Atrial fibrillation",
"entity_name": "GJA5",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:32.704443+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Amber was added to GCH1.\nSource BabySeq Category B gene was added to GCH1.\nMode of inheritance for gene GCH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Dystonia, dopa-responsive for gene: GCH1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:32.210716+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GABRG2 was added\ngene: GABRG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category C gene\nMode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRG2 were set to 27864268\nPhenotypes for gene: GABRG2 were set to Epileptic encephalopathy, early infantile, 74 MIM# 618396; Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Febrile seizures, familial, 8 MIM# 607681",
"entity_name": "GABRG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:31.601117+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category B gene was added to DSP.\nSource Expert Review Amber was added to DSP.\nSource BabySeq Category A gene was added to DSP.\nMode of inheritance for gene DSP was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Epidermolysis bullosa, lethal acantholytic; Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:30.908305+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSG2 was added\ngene: DSG2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:30.515615+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DSC2 was added\ngene: DSC2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:29.707221+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category B gene was added to DMD.\nSource Expert Review Amber was added to DMD.\nSource BabySeq Category A gene was added to DMD.\nAdded phenotypes Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy, dilated for gene: DMD\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:29.098826+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Amber was added to DKC1.\nSource BabySeq Category B gene was added to DKC1.\nAdded phenotypes Dyskeratosis congenita for gene: DKC1\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:28.419322+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DES was added\ngene: DES was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DES were set to Myopathy, myofibrillar; Cardiomyopathy, dilated",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:28.005717+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRYAB was added\ngene: CRYAB was added to gNBS. Sources: BabySeq Category B gene,Expert Review Amber,BabySeq Category A gene\nMode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CRYAB were set to Myofibrillar myopathy; Cardiomyopathy, dilated",
"entity_name": "CRYAB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:27.609005+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CP was added\ngene: CP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Aceruloplasminaemia",
"entity_name": "CP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:27.004611+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN2A was added\ngene: CDKN2A was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN2A were set to Melanoma",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:26.418480+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source Expert Review Amber was added to CACNA1C.\nSource BabySeq Category B gene was added to CACNA1C.\nAdded phenotypes Brugada syndrome for gene: CACNA1C\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:25.790834+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:25.395799+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AIP was added\ngene: AIP was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AIP were set to Pituitary adenoma",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:24.996010+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTA2 was added\ngene: ACTA2 was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:24.397938+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF469 was added\ngene: ZNF469 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZNF469 were set to Brittle cornea syndrome",
"entity_name": "ZNF469",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:24.002318+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZMPSTE24 was added\ngene: ZMPSTE24 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy",
"entity_name": "ZMPSTE24",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:23.610017+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZIC3 were set to Heterotaxy",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:23.009213+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZIC2 were set to Holoprosencephaly-5",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:22.614413+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZEB2 was added\ngene: ZEB2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZEB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ZEB2 were set to Mowat-Wilson syndrome",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:22.293760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZAP70 was added\ngene: ZAP70 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZAP70 were set to ZAP70-related severe combined immunodeficiency",
"entity_name": "ZAP70",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:21.605444+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPC was added\ngene: XPC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to Xeroderma pigmentosum",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:21.216643+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:20.801835+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XIAP was added\ngene: XIAP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, MIM# 300635",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:20.207548+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:19.808015+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRAP53 were set to 32303682; 21205863; 29514627\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:19.411625+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WHRN was added\ngene: WHRN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WHRN were set to 15841483; 28254438; 17171570; 12833159; 26338283; 20502675; 21738389; 27117407; 29270100; 22147658\nPhenotypes for gene: WHRN were set to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:18.806339+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Wolfram syndrome",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:18.428846+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR62 was added\ngene: WDR62 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:18.091011+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Neutropenia, severe congenital, X-linked , MIM#300299; Thrombocytopaenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:17.487649+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS45 was added\ngene: VPS45 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:17.095767+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:16.697052+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:16.087626+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13A was added\ngene: VPS13A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:29:15.692566+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1",
"entity_name": "VLDLR",
"entity_type": "gene"
}
]
}