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{
"count": 221284,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1649",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1647",
"results": [
{
"created": "2020-08-27T20:58:57.756519+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Adrenoleukodystrophy for gene: ABCD1",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:57.447068+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypertrichotic osteochondrodysplasia for gene: ABCC9",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:57.147081+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hyperinsulinemic hypoglycemia, familial for gene: ABCC8",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:56.850431+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Pseudoxanthoma elasticum for gene: ABCC6",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:56.619140+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 3 for gene: ABCB4",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:56.322353+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Cholestasis, progressive familial intrahepatic 2 for gene: ABCB11",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:55.955377+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Stargardt disease for gene: ABCA4",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:55.444134+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3 for gene: ABCA3",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:55.146345+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ABCA12",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:54.847004+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Charcot-Marie-Tooth disease for gene: AARS",
"entity_name": "AARS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:58:54.547130+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Achalasia-addisonianism-alacrimia syndrome for gene: AAAS",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:41:27.837017+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FAT4 as ready",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:41:27.826029+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:41:24.484008+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FAT4 were changed from to Van Maldergem syndrome 2, MIM# 615546",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:41:03.406105+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FAT4 were set to ",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:40:36.987403+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:40:10.730636+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FAT4 as Amber List (moderate evidence)",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:40:10.720893+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fat4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:39:39.753901+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FAT4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22473091, 24056717; Phenotypes: Van Maldergem syndrome 2, MIM# 615546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:07.746538+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDZD7 was added\ngene: PDZD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: PDZD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDZD7 were set to Usher syndrome",
"entity_name": "PDZD7",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:07.539447+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADGRG1 was added\ngene: ADGRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:07.337102+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR143 was added\ngene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:07.130957+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:06.923443+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNS was added\ngene: GNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis IIId",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:06.656065+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTG was added\ngene: GNPTG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:06.456027+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis II",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:06.247046+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:05.747726+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:05.543890+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GNAS was set to Unknown\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:05.336271+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLUD1 was added\ngene: GLUD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLUD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLUD1 were set to Hyperinsulinism",
"entity_name": "GLUD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:05.134116+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRA1 was added\ngene: GLRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:04.926668+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:04.720490+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDC was added\ngene: GLDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:04.456777+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Gangliosidosis GM1",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:04.249691+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:04.053744+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Pelizaeus-Merzbacher-like disease",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:03.750336+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes Deafness and palmoplantar keratoderma for gene: GJB2",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:03.548417+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJB2 was added\ngene: GJB2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJB2 were set to Deafness",
"entity_name": "GJB2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:03.343902+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJB1 was added\ngene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy",
"entity_name": "GJB1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:03.135744+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:02.933861+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GIPC3 was added\ngene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GIPC3 were set to Hearing loss",
"entity_name": "GIPC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:02.726796+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFPT1 was added\ngene: GFPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:02.521949+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFM1 was added\ngene: GFM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:02.053796+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFAP was added\ngene: GFAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GFAP were set to Alexander disease",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:01.838760+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDAP1 was added\ngene: GDAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:01.634677+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCK was added\ngene: GCK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GCK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:01.432937+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:01.230451+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBE1 was added\ngene: GBE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV",
"entity_name": "GBE1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:01.028187+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GBA was added\ngene: GBA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease 1",
"entity_name": "GBA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:00.823078+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GATA4 were set to Congenital heart defects",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:00.620448+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Dyserythropoietic anemia with thrombocytopenia",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:00.355316+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAN was added\ngene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAN were set to Giant axonal neuropathy",
"entity_name": "GAN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:03:00.150362+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALT was added\ngene: GALT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosaemia",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:59.940794+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNS was added\ngene: GALNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA",
"entity_name": "GALNS",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:59.536818+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALK1 was added\ngene: GALK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:59.335540+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALC was added\ngene: GALC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:59.134574+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GAA was added\ngene: GAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II",
"entity_name": "GAA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:58.932391+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PD was added\ngene: G6PD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: G6PD were set to Glucose-6-phosphate dehydrogenase deficiency",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:58.730895+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Neutropaenia, congenital",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:58.529867+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC was added\ngene: G6PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC were set to Glycogen storage disease Ia",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:58.329328+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FXN was added\ngene: FXN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FXN were set to Friedreich ataxia",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:58.127338+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FUCA1 was added\ngene: FUCA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:57.923409+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FTL was added\ngene: FTL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FTL were set to Neuroferritinopathy",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:57.725323+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRAS1 was added\ngene: FRAS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRAS1 were set to Fraser syndrome",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:57.448090+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FOXP3 were set to IPEX syndrome",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:57.120281+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXF1 was added\ngene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins",
"entity_name": "FOXF1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:56.920626+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC2 were set to Lymphoedema, primary",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:56.720398+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC1 was added\ngene: FOXC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FOXC1 were set to Axenfeld-Rieger syndrome",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:56.518752+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to Otopalatodigital spectrum disorder",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:56.257552+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:56.035899+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:55.839025+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKTN was added\ngene: FKTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:55.544802+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Muscle-eye-brain disease for gene: FKRP",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:55.344740+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FKRP was added\ngene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:55.141516+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FHL1 was added\ngene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:54.945806+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FH were set to Fumarase deficiency",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:54.744510+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGG was added\ngene: FGG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGG were set to Afibrinogenaemia",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:54.520656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Muenke syndrome for gene: FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:54.046876+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:53.744331+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:53.520521+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Hypochondroplasia for gene: FGFR3",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:53.256021+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR3 were set to Achondroplasia",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:53.038268+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Jackson-Weiss syndrome for gene: FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:52.747731+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:52.528529+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Crouzon syndrome for gene: FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:52.240403+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added phenotypes Apert syndrome for gene: FGFR2",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:52.044148+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR2 were set to Pfeiffer syndrome",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:51.843650+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGFR1 were set to Kallmann syndrome",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:51.644796+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF3 was added\ngene: FGF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia",
"entity_name": "FGF3",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:51.444814+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD4 was added\ngene: FGD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:51.046871+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGD1 was added\ngene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FGD1 were set to Aarskog-Scott syndrome",
"entity_name": "FGD1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.845881+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGB was added\ngene: FGB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGB were set to Afibrinogenaemia",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.646516+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGA was added\ngene: FGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FGA were set to Afibrinogenaemia",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.444656+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN2 was added\ngene: FBN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN2 were set to Contractural arachnodactyly",
"entity_name": "FBN2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.247481+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBN1 was added\ngene: FBN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan's syndrome",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:50.069798+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FBLN5 was added\ngene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN5 were set to Cutis laxa",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.846065+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anaemia",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.645267+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anaemia",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.446172+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2020-08-27T20:02:49.248018+10:00",
"panel_name": "Newborn Screening_BabySeq",
"panel_id": 3302,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anaemia",
"entity_name": "FANCC",
"entity_type": "gene"
}
]
}