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{
"count": 220405,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=955",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=953",
"results": [
{
"created": "2022-03-02T19:35:05.233301+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHIP were changed from Developmental delay, ID, obesity and dysmorphic features to Chung-Jansen syndrome, MIM#617991",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:52.280664+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHIP were set to ",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:38.634351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHIP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:29.258629+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PHIP as Red List (low evidence)",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:29.248534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phip has been classified as Red List (Low Evidence).",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:34:17.325717+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. \nSources: Expert list; to: Recent large case series describing 20 individuals; variable expressivity, some inherited from mildly affected parents, most de novo. ID, dysmorphism and obesity are the key features. Clinical presentation is typically post-natal.\r\nSources: Expert list",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:33:38.913368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PHIP: Changed rating: RED",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:49.714299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO2 as ready",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:49.701024+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo2 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:45.996514+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO2 were changed from Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3 to Marden-Walker syndrome, MIM# 248700; Arthrogryposis, distal, type 3, MIM# 114300",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:30.449502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO2 were set to ",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:13.967404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIEZO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:31:00.320457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene is associated with several phenotypes. The other two DA phenotypes do not have ID as a feature. Mild ID is part of the phenotype of some individuals with DA type 3. ID is part of the phenotype of Marden-Walker, however only one individual with PIEZO2 variant has been reported to date.; to: Gene is associated with several phenotypes, contractures are a key feature.",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:30:36.002194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIEZO2: Changed rating: GREEN",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:30:08.703520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGA as ready",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:30:08.692383+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piga has been classified as Green List (High Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:30:04.962975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:29:52.312548+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGA were set to ",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:29:14.003196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGL as ready",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:29:13.991005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigl has been classified as Green List (High Evidence).",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:29:10.074169+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGL were changed from ZUNICH NEUROECTODERMAL SYNDROME to CHIME syndrome, MIM# 280000, MONDO:0010221",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:28:56.535977+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGL were set to ",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:28:43.475399+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PIGL.",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:28:02.643346+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGO as ready",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:28:02.629720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigo has been classified as Green List (High Evidence).",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:27:58.979565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGO were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 to Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2022-03-02T19:27:46.176170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGO were set to ",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:55:38.573382+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGT as ready",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:55:38.563821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigt has been classified as Green List (High Evidence).",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:55:34.916116+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGT were changed from MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 to Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:55:22.300926+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGT were set to ",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:53:15.378788+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGV as ready",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:53:15.367305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigv has been classified as Green List (High Evidence).",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:53:11.532775+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGV were changed from HYPERPHOSPHATASIA WITH MENTAL RETARDATION to Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:52:55.269847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGV were set to ",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:51:22.292824+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3CA as ready",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:51:22.280671+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3ca has been classified as Green List (High Evidence).",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:51:18.075186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3CA were changed from CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI; HEMIMEGALENCEPHALY PIK3CA; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:50:58.662466+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3CA were set to 30712880; 28425981",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:50:41.152818+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:50:28.531826+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single case report of MCAP with fetal hydrops presentation, PIK3CA variant identified. \nSources: Expert list; to: Multiple congenital anomalies.\r\nSources: Expert list",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:48:55.044740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3CA: Changed rating: GREEN; Changed phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:46:56.238492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R1 as ready",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:46:56.226642+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r1 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:46:52.420348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R1 were changed from AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; SHORT SYNDROME to SHORT syndrome, MIM#269880",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:46:27.697930+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not part of the phenotype.; to: IUGR.",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:45:50.036292+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIK3R1: Changed rating: GREEN",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:45:11.289221+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: In family 2 with missense Gly130Ser, ther is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations; to: In family 2 with missense Gly130Ser, there is 228 hets 0 homs in gnomAD v2. \r\n\r\nThis leaves 1 family with the splice variant which is absent in gnomAD, cDNA studies to prove a splice defect and segregation in 14 affecteds across 2 generations",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:45:04.400311+11:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "1.2",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33633367; Phenotypes: Peripheral vitreoretinal degeneration and retinal detachment, AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL9A3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:43:45.357887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:43:45.349013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:43:41.822137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:43:26.226511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to 28425981",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:43:10.597029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:42:34.627470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX3 as ready",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:42:34.613112+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx3 has been classified as Green List (High Evidence).",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:42:30.534750+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX3 were changed from CATARACT AUTOSOMAL DOMINANT; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CATARACT POSTERIOR POLAR TYPE 4 to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:42:15.980460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX3 were set to ",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:42:02.832858+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:41:03.309231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1L1 as ready",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:41:03.297496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1l1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:40:58.657994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD1L1 were changed from Laterality defects to Heterotaxy, visceral, 8, autosomal (MIM#617205)",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:40:42.662099+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD1L1 were set to ",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:39:48.459991+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKHD1 as ready",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:39:48.449823+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkhd1 has been classified as Green List (High Evidence).",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:39:44.864797+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:35:44.762288+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Included due to possible phenotypic overlap. \nSources: Expert Review; to: Presents antenatally.\r\nSources: Expert Review",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:34:17.192765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKLR as ready",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:34:17.180205+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pklr has been classified as Green List (High Evidence).",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:34:12.706953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKLR were set to ",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:33:00.792600+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:33:00.739289+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:56.376305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to Congenital disorder of glycosylation, type Ia , MIM#212065",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:44.263306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:32:29.210520+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia , MIM#212065; Mode of inheritance: None",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:29:48.750715+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:29:48.734635+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:29:44.771820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 to Microcephaly, seizures, and developmental delay, MIM#613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:28:29.832233+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:32.513747+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POC1A as ready",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:32.501973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: poc1a has been classified as Green List (High Evidence).",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:28.254799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POC1A were changed from PRIMORDIAL DWARFISM; SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, MIM#614813",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:27:09.339848+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is not a prominent feature of the phenotype.; to: Skeletal dysplasia.",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:26:51.661638+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POC1A: Changed rating: GREEN",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:39.766923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:39.756679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Green List (High Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:25:35.382456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POGZ were changed from INTELLECTUAL DISABILITY to White-Sutton syndrome, MIM# 616364; MONDO:0014606",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:40.144757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POGZ were set to ",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:39.918166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4554",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: PLK1 was added\ngene: PLK1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PLK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLK1 were set to 33875846\nPhenotypes for gene: PLK1 were set to Epilepsy; microcephaly; intellectual disability\nReview for gene: PLK1 was set to AMBER\ngene: PLK1 was marked as current diagnostic\nAdded comment: Five individuals reported with microcephaly. However, unclear if microcephaly is pre or post natal. \nSources: Literature",
"entity_name": "PLK1",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:21:26.815960+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POGZ was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:20:57.659362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding.\r\n\r\nMore than 40 individuals reported.; to: White-Sutton syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. Additional features may include hypotonia, sensorineural hearing impairment, visual defects, joint laxity, and gastrointestinal difficulties, such as poor feeding.\r\n\r\nMore than 40 individuals reported.\r\n\r\nMicrocephaly is a feature, congenital heart disease rarely reported.",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:19:14.836511+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR1C as ready",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:19:14.824270+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr1c has been classified as Green List (High Evidence).",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:57.456372+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1C were changed from TREACHER COLLINS SYNDROME TYPE 3 to Treacher Collins syndrome 3, MIM# 248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:44.858028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR1C were set to ",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:29.447036+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 8 unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list; to: Treacher Collins more likely to be detected antenatally.\r\n\r\nSources: Expert list",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:18:06.555596+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1C: Changed phenotypes: Leukodystrophy, hypomyelinating, 11, MIM# 616494, Treacher Collins syndrome 3, MIM# 248390",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:51.920001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT2 as ready",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:51.910137+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt2 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2022-03-02T17:16:47.934834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.4551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT2 were changed from WALKER WARBERG SYNDROME to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, MIM# 614830",
"entity_name": "POMGNT2",
"entity_type": "gene"
}
]
}