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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=981",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=979",
"results": [
{
"created": "2022-02-21T21:19:43.745953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPV17 were set to ",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:19:28.447397+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:55.468329+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:55.457394+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Red List (Low Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:51.381013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPI were set to ",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:05.683893+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:05.671921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:09:01.729628+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGAT2 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:08:48.361487+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to ",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:08:32.425733+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGAT2 as Amber List (moderate evidence)",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:08:32.412038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:08:19.450517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MGAT2: Changed rating: AMBER",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:07:42.937214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MECP2 as ready",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:07:42.928432+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mecp2 has been classified as Red List (Low Evidence).",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:07:37.885444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MECP2 were changed from MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13; MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE; CHROMOSOME XQ28 DUPLICATION SYNDROME; ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS; RETT SYNDROME (RTT)[ to Rett syndrome, MIM# 312750; Encephalopathy, neonatal severe 300673",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:07:06.795474+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, microcephaly is a key phenotypic feature both in Rett syndrome and in males affected by severe neonatal encephalopathy.; to: Well established gene-disease association, typically presents post-natally.",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:06:46.052066+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MECP2: Changed rating: RED",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:05:36.561937+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAOA as ready",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:05:36.543482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: maoa has been classified as Red List (Low Evidence).",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:05:25.090094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAOA were changed from BRUNNER SYNDROME to Brunner syndrome, MIM# 300615",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:05:03.875828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAOA were set to ",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:04:44.093243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Increased serotonin. ID, autonomic dysfunction, essential tremor, behavioural abnormalities.; to: Increased serotonin. ID, autonomic dysfunction, essential tremor, behavioural abnormalities. Typically presents post-natally.",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:04:32.061831+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAOA: Changed rating: RED",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:04:03.727367+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:04:03.711094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Red List (Low Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:03:54.117773+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAN2B1 were changed from LYSOSOMAL ALPHA-MANNOSIDOSIS to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:03:36.675737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MAN2B1: Changed rating: RED",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:01:19.779281+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPO as ready",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:01:19.767055+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpo has been classified as Green List (High Evidence).",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:00:34.449403+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPO as Green List (high evidence)",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-02-21T21:00:34.437668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpo has been classified as Green List (High Evidence).",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:58:56.533173+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRMT7 as ready",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:58:56.520326+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prmt7 has been classified as Green List (High Evidence).",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:58:49.886568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRMT7 were changed from Pseudohypoparathyroidism-like disorder to Short stature, brachydactyly, intellectual developmental disability, and seizures, OMIM #617157",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:58:37.372974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRMT7 were set to ",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:57:53.623525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:57:53.610544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:57:21.191113+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from NON SYNDROMAL HEARING LOSS; DOORS SYNDROME; MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL to DOORS syndrome MIM#220500",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:56:53.856517+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D24 were set to ",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:56:13.449208+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHOX2B as ready",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:56:13.437570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:56:09.770454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHOX2B were changed from CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:55:41.747495+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHOX2B were set to ",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:55:20.061734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:54:44.957262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRG4 as ready",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:54:44.947386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prg4 has been classified as Green List (High Evidence).",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:54:37.843461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRG4 were set to ",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:53:28.715085+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIEZO1 as ready",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:53:28.703802+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: piezo1 has been classified as Green List (High Evidence).",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:53:22.468140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIEZO1 were changed from Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843 to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM #194380; Lymphatic malformation 6, OMIM #616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:53:09.081762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:52:24.023084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:52:24.013190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:52:11.948309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from to Deafness, autosomal dominant 65 MIM#616044; Deafness, autosomal recessive 86 MIM#614617; Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:51:51.861694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D24 were set to ",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:51:33.282931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D24 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:50:50.539081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD2 as ready",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:50:50.521029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod2 has been classified as Green List (High Evidence).",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:50:46.181687+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD2 were changed from BRUCK SYNDROME TYPE 2 to Bruck syndrome 2 , OMIM #609220",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:50:33.617537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD2 were set to ",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:49:51.208574+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD1 as ready",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:49:51.196964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod1 has been classified as Green List (High Evidence).",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:49:46.023142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD1 were changed from EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM to Ehlers-Danlos syndrome, kyphoscoliotic type, 1, OMIM #225400",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:49:34.222690+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD1 were set to ",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:48:54.408966+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRB as ready",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:48:54.398614+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thrb has been classified as Amber List (Moderate Evidence).",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:48:41.879180+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THRB as Amber List (moderate evidence)",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:48:41.859154+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thrb has been classified as Amber List (Moderate Evidence).",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:48:28.446940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THRB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "THRB",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:47:45.249071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHF6 as ready",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:47:45.235578+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Red List (Low Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:47:41.448914+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHF6 were changed from BOERJESON-FORSSMAN-LEHMANN SYNDROME to Borjeson-Forssman-Lehmann syndrome, OMIM # 301900",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:47:04.403056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEPD as ready",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:47:04.390626+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pepd has been classified as Red List (Low Evidence).",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:46:59.689720+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEPD were changed from PROLIDASE DEFICIENCY to Prolidase deficiency, OMIM #170100",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:46:10.569665+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D23 as ready",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:46:10.557899+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:45:56.404427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D23 were changed from Non-degenerative Pontocerebellar Hypoplasia to Pontocerebellar hypoplasia, type 11, MIM# 617695",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:45:44.037204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D23 were set to ",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:45:32.138737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D23 as Amber List (moderate evidence)",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:45:32.129704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:44:51.900015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PITX2 as ready",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:44:51.889095+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pitx2 has been classified as Green List (High Evidence).",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:44:46.285999+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITX2 were changed from AXENFELD-RIEGER SYNDROME TYPE 1; PETERS ANOMALY; RING DERMOID OF CORNEA; IRIDOGONIODYSGENESIS TYPE 2 to Anterior segment dysgenesis 4, OMIM #137600; Axenfeld-Rieger syndrome, type 1, OMIM #180500",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:44:24.013820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PITX2 were set to ",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:44:13.181079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PITX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:43:29.767000+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAPT1 as ready",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:43:29.757492+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:43:05.450497+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAPT1 were changed from COMPLEX LETHAL OSTEOCHONDRODYSPLASIA to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:42:48.108162+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAPT1 as Amber List (moderate evidence)",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:42:48.085436+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tapt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:42:08.104643+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26365339; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAPT1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:41:55.488625+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAM were set to 27448789; 29021295; 9500544; 32399598; 34647195; 34647195",
"entity_name": "TFAM",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:58.528887+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD2 as ready",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:58.515800+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd2 has been classified as Green List (High Evidence).",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:54.322657+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PKD2 were changed from Polycystic kidney disease 613095 to Polycystic kidney disease 2, OMIM #613095",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:42.818764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PKD2 were set to ",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:29.897072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PKD2 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": "PKD2",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:01.855340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PKD1 as ready",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2022-02-21T20:40:01.805541+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pkd1 has been classified as Green List (High Evidence).",
"entity_name": "PKD1",
"entity_type": "gene"
}
]
}