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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1128",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1126",
"results": [
{
"created": "2021-11-15T17:51:28.579639+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL1RAPL1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:50:16.297497+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag 5'UTR tag was added to gene: IFITM5.",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:49:41.255448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFITM5 as ready",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:49:41.246625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifitm5 has been classified as Green List (High Evidence).",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:49:34.633578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFITM5 were changed from to Osteogenesis imperfecta, type V MIM#610967",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:49:17.459805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFITM5 were set to ",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:48:57.963455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: IFITM5 was changed from to Other",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:48:39.248913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFITM5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:27:37.010162+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST14 as ready",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:27:36.994935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst14 has been classified as Green List (High Evidence).",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:27:32.865717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST14 were changed from EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:27:19.269783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST14 were set to ",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:26:59.548825+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHST14: Changed rating: GREEN",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:26:46.037939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CHST14",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:26:24.319393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNG as ready",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:26:24.309546+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrng has been classified as Green List (High Evidence).",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:26:10.712699+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNG were changed from MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT to Escobar syndrome, MIM# 265000; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009926; MONDO:0009668",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:25:59.003491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNG were set to ",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:25:22.576359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:25:22.565819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:24:21.100210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:24:02.325981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:23:46.091685+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:23:20.307164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 16916845, 11435464, 12499478, 18398509, 11782989, 29399782, 18252226; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:22:52.856358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:22:32.485694+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:21:17.515408+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRND as ready",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:21:17.502500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrnd has been classified as Green List (High Evidence).",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:21:14.005445+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRND were changed from Several associated, probably most relevant is lethal multiple pterygium syndrome 253290 to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:21:00.380927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRND were set to ",
"entity_name": "CHRND",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:20:34.041530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:20:34.030976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:20:27.550233+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668; Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:20:10.726543+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA1 were set to ",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:19:46.674229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRNA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:19:30.798469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26910802, 10195214, 12588888, 15079006, 18806275, 7619526, 8872460, 9158151, 18252226; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:17:45.740705+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:17:45.731462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:17:41.537576+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290; MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE to Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:09:13.648864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P3H1 as ready",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:09:13.639499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p3h1 has been classified as Green List (High Evidence).",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:09:06.363358+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P3H1 were changed from OSTEOGENESIS IMPERFECTA, TYPE VIII to Osteogenesis imperfecta, type VIII\t610915",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:08:44.668957+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P3H1 were set to ",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:07:47.261314+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.496",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: ITGB4: Changed publications: 20301336",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:07:40.067536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.496",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: ITGA6: Changed publications: 31502654, 27607025, 9158140, 34525201, 20301336",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:06:00.215372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGB4 as ready",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:06:00.202922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgb4 has been classified as Green List (High Evidence).",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:05:55.601840+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGB4 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric atresia MIM#226730",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:05:28.856401+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.495",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "edited their review of gene: MATN3: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:05:12.980971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA6 as ready",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:05:12.970910+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga6 has been classified as Green List (High Evidence).",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:05:08.941226+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA6 were changed from Epidermolysis Bullosa with Pyloric Atresia. 226730 to Epidermolysis bullosa, junctional, with pyloric stenosis MIM#226730",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:04:56.732517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA6 were set to ",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:04:08.298459+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF6 as ready",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:04:08.289005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf6 has been classified as Green List (High Evidence).",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:04:03.676550+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF6 were changed from VAN DER WOUDE SYNDROME; POPLITEAL PTERYGIUM SYNDROME to Popliteal pterygium syndrome 1MIM#119500; van der Woude syndrome MIM#119300",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:03:50.064374+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:03:08.867762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INTU as ready",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:03:08.857613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: intu has been classified as Green List (High Evidence).",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:03:02.812643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INTU were changed from ?Short-rib thoracic dysplasia 20 with polydactyly, 617925 to Orofaciodigital syndrome XVII MIM#617926; Short-rib thoracic dysplasia 20 with polydactyly MIM#617925",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:57.263943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: INPPL1 as ready",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:57.254380+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: inppl1 has been classified as Green List (High Evidence).",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:48.606272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.490",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: INPPL1 were changed from OPSISMODYSPLASIA to Opsismodysplasia MIM#258480",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:46.550371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INTU were set to 28289185; 29451301; 30266093",
"entity_name": "INTU",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:33.723768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.488",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: INPPL1 were set to ",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:02:12.656813+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IMPAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22887726, 21549340; Phenotypes: Chondrodysplasia with joint dislocations, GPAPP type MIM#614078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:01:21.938775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IMPAD1 as ready",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:01:21.927984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: impad1 has been classified as Green List (High Evidence).",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:01:16.071444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IMPAD1 were changed from CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE to Chondrodysplasia with joint dislocations, GPAPP type MIM#614078",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:01:12.062673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.487",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: MATN3 were changed from MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MIM#608728); Epiphyseal dysplasia, multiple, 5 (MIM#607078)",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:01:09.904679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:00:56.560971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.486",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: MATN3 were set to ",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:00:52.911512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IMPAD1 were set to ",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2021-11-15T17:00:38.982001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.484",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: MATN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "MATN3",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:59:48.579512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4278",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: IL1RAPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34452636, 27470653, 21484992, 18801879, 18801879; Phenotypes: Intellectual developmental disorder, X-linked 21 MIM#300143; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:59:34.415443+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL1RAPL1 as ready",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:59:34.405218+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rapl1 has been classified as Red List (Low Evidence).",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:59:03.448053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL1RAPL1 were changed from MENTAL RETARDATION X-LINKED TYPE 21 to Intellectual developmental disorder, X-linked 21 MIM#300143",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:58:51.392415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.482",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27864101, 33737016, 17277775, 19088120; Phenotypes: Osteogenesis imperfecta; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:58:50.983238+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL1RAPL1 were set to ",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:58:41.439415+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.481",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: ID the main feature, with mild dysmorphism described.\r\n\r\nonly CNVs have been reported; to: ID the main feature, with mild dysmorphism described.\r\n\r\nboth SNV and intragenic CNVs have been reported",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:58:38.629841+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IL1RAPL1 as Red List (low evidence)",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:58:38.619685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il1rapl1 has been classified as Red List (Low Evidence).",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:57:01.957643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.480",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: MAP3K1 as ready",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:57:01.943797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.480",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: map3k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:57.582742+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.480",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: MAP3K1 were changed from 46XY SEX REVERSAL 6 to 46XY sex reversal 6 (MIM#613762)",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:42.644265+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.479",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: MAP3K1 were set to ",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:33.577752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.478",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP3K1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:20.708591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAFB as ready",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:20.697397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mafb has been classified as Green List (High Evidence).",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:19.279430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: MAP3K1 as Green List (high evidence)",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:19.274604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Hypospadias in males potentially detectable on US",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:19.239447+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: map3k1 has been classified as Green List (High Evidence).",
"entity_name": "MAP3K1",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:56:09.792715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAFB were changed from to Multicentric carpotarsal osteolysis syndrome (MIM#166300); Duane retraction syndrome 3, MIM# 617041",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:55:41.867764+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAFB were set to ",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:55:11.374986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 27181683; Phenotypes: Duane retraction syndrome 3, MIM# 617041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAFB",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:54:24.649388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9735",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:53:31.281165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.476",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: IFITM5: Added comment: Comment on mode of pathogenicity: LoF not established, alternative neomorph/GoF postulated but not yet conclusively proven; Changed mode of pathogenicity: Other",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:53:22.239724+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: IL11RA as ready",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2021-11-15T16:53:22.221971+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: il11ra has been classified as Green List (High Evidence).",
"entity_name": "IL11RA",
"entity_type": "gene"
}
]
}