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{
"count": 221276,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1644",
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"results": [
{
"created": "2020-08-27T21:01:27.024533+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:26.735203+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSX2 was added\ngene: MSX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSX2 were set to Parietal foramina 1",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:26.450098+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPZ was added\ngene: MPZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:26.231223+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:25.944283+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:25.727174+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:25.440292+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:25.222005+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:24.938594+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:24.658631+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:24.435792+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:23.935127+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:23.650227+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:23.431232+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:23.145213+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:22.928693+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to Bardet-Biedl syndrome",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:22.643031+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MITF were set to Waardenburg syndrome",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:22.427045+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGP was added\ngene: MGP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:22.147973+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:21.924372+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:21.642446+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia I",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:21.423302+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:20.921990+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEFV was added\ngene: MEFV was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MEFV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEFV were set to Mediterranean fever, familial",
"entity_name": "MEFV",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:20.635417+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Intellectual disability",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:20.353111+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Rett syndrome",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:20.137583+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:19.850485+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:19.631715+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCFD2 was added\ngene: MCFD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and Factor VIII deficiency, combined",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:19.343284+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:19.132904+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MARVELD2 was added\ngene: MARVELD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive",
"entity_name": "MARVELD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:18.847695+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:18.632048+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:18.347906+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:17.854614+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGI2 was added\ngene: MAGI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAGI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAGI2 were set to Infantile spasms",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:17.639955+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAFB was added\ngene: MAFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:17.420373+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:17.138325+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:16.923625+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRTOMT was added\ngene: LRTOMT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRTOMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRTOMT were set to Deafness, autosomal recessive",
"entity_name": "LRTOMT",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:16.642427+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRSAM1 was added\ngene: LRSAM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:16.427595+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC6 was added\ngene: LRRC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:16.144461+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:15.826069+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene LRP5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Osteopetrosis, autosomal dominant for gene: LRP5",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:15.539474+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:15.324694+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP4 was added\ngene: LRP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:14.830138+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:14.549670+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LOXHD1 was added\ngene: LOXHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LOXHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LOXHD1 were set to Deafness, autosomal recessive",
"entity_name": "LOXHD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:14.333653+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMX1B was added\ngene: LMX1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LMX1B were set to Nail patella syndrome",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:14.056552+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:13.725602+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes Charcot-Marie-Tooth disease for gene: LMNA",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:13.447200+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,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 Emery-Dreifuss muscular dystrophy 2",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:13.232099+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:12.947698+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LITAF was added\ngene: LITAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease",
"entity_name": "LITAF",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:12.733995+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Wolman syndrome",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:12.240634+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:12.024079+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:11.744032+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:11.532297+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHFPL5 was added\ngene: LHFPL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LHFPL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHFPL5 were set to Deafness, autosomal recessive",
"entity_name": "LHFPL5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:11.250110+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEPR was added\ngene: LEPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LEPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEPR were set to Obesity, morbid, due to leptin receptor deficiency",
"entity_name": "LEPR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:11.042569+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LDLR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: LDLR were set to Hypercholesterolemia",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:10.822110+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LBR were set to Pelger-Huet anomaly",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:10.544267+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Walker-Warburg syndrome",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:10.327328+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: LAMP2 were set to Danon disease",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:10.055629+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:09.833522+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:09.553928+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:09.335152+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:09.121952+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:08.627177+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to X-linked hydrocephalus syndrome",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:08.346196+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT6A was added\ngene: KRT6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT6A were set to Pachyonychia congenita",
"entity_name": "KRT6A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:08.131816+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:07.852012+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT17 was added\ngene: KRT17 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT17 were set to Pachyonychia congenita",
"entity_name": "KRT17",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:07.638139+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT16 was added\ngene: KRT16 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT16 were set to Pachyonychia congenita",
"entity_name": "KRT16",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:07.418670+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRT14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:07.144458+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRAS were set to Noonan syndrome",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:06.931114+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:06.652914+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:06.435116+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:06.224412+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Piebaldism",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:05.942135+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF21A was added\ngene: KIF21A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:05.735269+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM6A were set to Kabuki syndrome 2",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:05.453687+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:05.242158+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ4 was added\ngene: KCNQ4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNQ4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNQ4 were set to Deafness, autosomal dominant",
"entity_name": "KCNQ4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:05.028576+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:04.529481+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:04.250956+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:04.046739+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:03.756315+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:03.541299+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA1 were set to Episodic ataxia type 1",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:03.326487+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KBTBD13 were set to Nemaline myopathy",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:03.053801+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KAT6B were set to Genitopatellar syndrome",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:02.833923+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KANSL1 were set to Koolen-De Vries syndrome",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:02.555358+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Naxos disease",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:02.342865+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:02.131679+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: JAG1 were set to Alagille syndrome",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:01.849136+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:01.629530+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:01.351541+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:01.128805+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRF6 was added\ngene: IRF6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: IRF6 were set to van der Woude syndrome",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:00.847954+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T21:01:00.632727+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2",
"entity_name": "INVS",
"entity_type": "gene"
}
]
}