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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1166",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1164",
"results": [
{
"created": "2021-10-24T17:59:04.363877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:03.868491+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPRY1 was added\ngene: RSPRY1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RSPRY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPRY1 were set to PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA",
"entity_name": "RSPRY1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:03.251927+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH9 was added\ngene: RSPH9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary 612650",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:02.754943+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RSPH4A was added\ngene: RSPH4A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary 612649",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:02.042597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAS2 was added\ngene: RRAS2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12, MONDO:0032839; Noonan syndrome 12, OMIM:618624",
"entity_name": "RRAS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:01.464678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRAS was added\ngene: RRAS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RRAS were set to ATYPICAL NOONAN SYNDROME",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:00.757964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MONDO:0012939; Diamond-Blackfan anemia 8, OMIM:612563",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:00.262283+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RPS24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS24 were set to Diamond-blackfan anemia 3, OMIM:610629; Diamond-Blackfan anemia 3, MONDO:0012529",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:59.765551+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS23 was added\ngene: RPS23 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RPS23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPS23 were set to Microcephaly, hearing loss, and dysmorphic features",
"entity_name": "RPS23",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:59.070980+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RPL35A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPL35A were set to Diamond-Blackfan anemia 5, OMIM:612528; Diamond-Blackfan anemia 5, MONDO:0012925",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:58.651160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL10 was added\ngene: RPL10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPL10 were set to Intellectual disability, X-linked, syndromic, 35, MONDO:0030908; Mental retardation, X-linked, syndromic, 35, OMIM:300998",
"entity_name": "RPL10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:57.956410+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RORA was added\ngene: RORA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RORA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RORA were set to INTELLECTUAL DISABILITY",
"entity_name": "RORA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:57.466740+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROBO3 was added\ngene: ROBO3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROBO3 were set to Gaze palsy, familial horizontal, with progressive scoliosis 1, MONDO:0020790; Gaze palsy, familial horizontal, with progressive scoliosis, 1, OMIM:607313",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:56.772807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMND1 was added\ngene: RMND1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMND1 were set to ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:56.355647+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RLIM was added\ngene: RLIM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY",
"entity_name": "RLIM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:55.647462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIN2 was added\ngene: RIN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIN2 were set to MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:55.156729+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFT1 was added\ngene: RFT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, OMIM:612015; RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:54.461524+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM10 was added\ngene: RBM10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RBM10 were set to Tarp syndrome, MONDO:0010711; TARP syndrome, OMIM:311900",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:53.970190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBBP8 was added\ngene: RBBP8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBBP8 were set to Seckel syndrome 2, MONDO:0011715; Seckel syndrome 2, OMIM:606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:53.557072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:52.856306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51 was added\ngene: RAD51 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:52.374001+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB33B was added\ngene: RAB33B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, OMIM:615222; Smith-McCort dysplasia 2, MONDO:0014087",
"entity_name": "RAB33B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:51.749392+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB11B was added\ngene: RAB11B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:51.261320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB11A was added\ngene: RAB11A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAB11A were set to Epilepsy and intellectual disability",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:50.567342+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QARS was added\ngene: QARS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:50.151987+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYROXD1 was added\ngene: PYROXD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:49.456918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYGM was added\ngene: PYGM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYGM were set to Glycogen storage disease V, MONDO:0009293; McArdle disease, OMIM:232600",
"entity_name": "PYGM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:48.965228+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYCR2 was added\ngene: PYCR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:48.269591+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PXDN was added\ngene: PXDN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:47.860297+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN14 was added\ngene: PTPN14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTPN14 were set to Lymphedema-posterior choanal atresia syndrome, MONDO:0013324; Choanal atresia and lymphedema, OMIM:613611",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:47.369606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH was added\ngene: PTH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:46.749019+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 25152457; 31903955\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, MONDO:0014466; Neu-Laxova syndrome 2, OMIM:616038",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:46.261921+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to 33105479; 28334956; 26539891\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:45.557120+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PRKAG2 were set to Glycogen storage disease of heart, lethal congenital, OMIM:261740; Cardiomyopathy, hypertrophic 6, OMIM:600858; Lethal congenital glycogen storage disease of heart, MONDO:0009867; Hypertrophic cardiomyopathy 6, MONDO:0010946",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:45.101081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:44.369895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP3CA was added\ngene: PPP3CA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:43.958560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POP1 was added\ngene: POP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POP1 were set to Anauxetic dysplasia 2, OMIM:617396; Anauxetic dysplasia 2, MONDO:0054561",
"entity_name": "POP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:43.265029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1A was added\ngene: POLR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POLR1A were set to Acrofacial dysostosis, Cincinnati type, OMIM:616462; Acrofacial dysostosis Cincinnati type, MONDO:0014651",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:42.849130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG2 was added\ngene: POLG2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), OMIM:618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MONDO:0012415; Mitochondrial DNA depletion syndrome 16 (hepatic type), MONDO:0032799; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:42.358354+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLE were set to 23230001; 25948378\nPhenotypes for gene: POLE were set to severe growth failure of prenatal onset; IUGR; FILS syndrome, 615139; facial dysmorphism, immunodeficiency, livedo, and short stature (FILS)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:41.667534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA1 was added\ngene: PNPLA1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA1 were set to Autosomal recessive congenital ichthyosis 10, MONDO:0014011; Ichthyosis, congenital, autosomal recessive 10, OMIM:615024",
"entity_name": "PNPLA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:41.252168+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLPBP was added\ngene: PLPBP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLPBP were set to Vitamin-B6-Dependent Epilepsy",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:40.558412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:40.065761+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLD1 was added\ngene: PLD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLD1 were set to 27799408; 33645542\nPhenotypes for gene: PLD1 were set to Cardiac valvular defect, developmental, OMIM:212093",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:39.369735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB4 was added\ngene: PLCB4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLCB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PLCB4 were set to AURICULOCONDYLAR SYNDROME",
"entity_name": "PLCB4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:38.957045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCB1 was added\ngene: PLCB1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12",
"entity_name": "PLCB1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:38.260799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLAG1 was added\ngene: PLAG1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4, OMIM:618907; Silver-russell syndrome 4, MONDO:0030118",
"entity_name": "PLAG1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:37.768405+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLAA was added\ngene: PLAA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:37.354037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITX1 was added\ngene: PITX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PITX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PITX1 were set to Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800",
"entity_name": "PITX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:36.658731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3C2A was added\ngene: PIK3C2A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIK3C2A were set to Oculocerebrodental syndrome, MONDO:0034145; Oculoskeletodental syndrome, OMIM:618440",
"entity_name": "PIK3C2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:36.172973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIH1D3 was added\ngene: PIH1D3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:35.463290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGY was added\ngene: PIGY was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIGY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGY were set to Glycosylphosphatidylinositol deficiency",
"entity_name": "PIGY",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:35.046296+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, MONDO:0013563; Multiple congenital anomalies-hypotonia-seizures syndrome 1, OMIM:614080",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:34.351876+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGG was added\ngene: PIGG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGG were set to Intellectual Disability with Seizures and Hypotonia",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:33.866096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIBF1 was added\ngene: PIBF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33, MONDO:0033311; Joubert syndrome 33, OMIM:617767",
"entity_name": "PIBF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:33.247433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF21A was added\ngene: PHF21A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME",
"entity_name": "PHF21A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:32.759834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM3 was added\ngene: PGM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM3 were set to 28543917; 24931394\nPhenotypes for gene: PGM3 were set to PGM3-CDG, MONDO:0014353; Immunodeficiency 23, OMIM:615816",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:32.274139+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP1 were set to Intellectual disability, encephalopathy, impaired GPI-anchor maturation",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:31.654096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII, OMIM:232800; Glycogen storage disease VII, MONDO:0009295",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:31.164814+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PET100 was added\ngene: PET100 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:30.548391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS1 were set to COENZYME Q10 DEFICIENCY, PRIMARY, 2",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:30.060149+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6H was added\ngene: PDE6H was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6H were set to ACHROMATOPSIA; RETINAL CONE DYSTROPHY 3 PDE6H",
"entity_name": "PDE6H",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:29.367783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE10A was added\ngene: PDE10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PDE10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDE10A were set to Childhood-Onset Chorea with Bilateral Striatal Lesions",
"entity_name": "PDE10A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:28.957151+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PBX1 was added\ngene: PBX1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549",
"entity_name": "PBX1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:28.471236+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX7 was added\ngene: PAX7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis, OMIM:618578; Myopathy, congenital, progressive, with scoliosis, MONDO:0032821",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:27.852783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAICS was added\ngene: PAICS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PAICS were set to 31600779\nPhenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities; early neonatal death",
"entity_name": "PAICS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:27.377515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PACS1 was added\ngene: PACS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PACS1 were set to 30712880\nPhenotypes for gene: PACS1 were set to INTELLECTUAL DISABILITY",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:26.669041+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P4HB was added\ngene: P4HB was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:26.257723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD6B was added\ngene: OTUD6B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTUD6B were set to Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:25.550207+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD5 was added\ngene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OTUD5 were set to 33523931; 33131077\nPhenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:25.066463+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSGEP was added\ngene: OSGEP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:24.453586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NXN was added\ngene: NXN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2, OMIM:618529; Robinow syndrome, autosomal recessive 2, MONDO:0032800",
"entity_name": "NXN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:23.965919+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUS1 was added\ngene: NUS1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NUS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NUS1 were set to Epilepsy and intellectual disability",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:23.555908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP88 was added\ngene: NUP88 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUP88 were set to 30543681\nPhenotypes for gene: NUP88 were set to Fetal akinesia deformation sequence 4, MONDO:0100104; Fetal akinesia deformation sequence 4, OMIM:618393",
"entity_name": "NUP88",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:22.863360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to INFANTILE STRIATONIGRAL DEGENERATION",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:22.453868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUAK2 was added\ngene: NUAK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NUAK2 were set to 22689267; 32845958\nPhenotypes for gene: NUAK2 were set to Anencephaly",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:21.758723+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTRK2 was added\ngene: NTRK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NTRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NTRK2 were set to Epilepsy and intellectual disability",
"entity_name": "NTRK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:21.349306+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSUN2 was added\ngene: NSUN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NSUN2 were set to AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:20.657106+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NRXN2 was added\ngene: NRXN2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NRXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NRXN2 were set to AUTISM",
"entity_name": "NRXN2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:20.170140+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOVA2 was added\ngene: NOVA2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOVA2 were set to Intellectual disability with ataxia/spasticity",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:19.758791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NONO was added\ngene: NONO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: NONO were set to 32397791\nPhenotypes for gene: NONO were set to Atresia; Ventricular septal defect (VSD); Pulmonary stenosis; Ebstein s anomaly; Left ventricular non-compaction cardiomyopathy (LVNC)",
"entity_name": "NONO",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:19.064070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT2 was added\ngene: NMNAT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT2 were set to 31132363; 23082226; 31136762\nPhenotypes for gene: NMNAT2 were set to hydropic placenta; hydrocephalus; micrognathia; bilateral hypoplastic lungs; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; cleft palate; hydrops fetalis; flexion contractures of all extremities; cystic hygroma",
"entity_name": "NMNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:18.656528+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Progressive Spastic Ataxia and Hypomyelination",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:17.964946+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPAL4 was added\ngene: NIPAL4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIPAL4 were set to Autosomal recessive congenital ichthyosis 6, MONDO:0012847; Ichthyosis, congenital, autosomal recessive 6, OMIM:612281",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:17.559419+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHP2 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:16.865395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEXMIF was added\ngene: NEXMIF was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NEXMIF were set to Intellectual disability and epilepsy; KIAA2022",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:16.453941+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK9 was added\ngene: NEK9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NEK9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK9 were set to 26908619; 26633546; 32333414; 21271645\nPhenotypes for gene: NEK9 were set to Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; NEK9-related lethal skeletal dysplasia, MONDO:0014870; Lethal congenital contracture syndrome 10, OMIM:617022; ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262",
"entity_name": "NEK9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:15.754790+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK8 was added\ngene: NEK8 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK8 were set to 26697755; 18199800; 26967905; 26862157; 23418306\nPhenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, OMIM:615415; ?Nephronophthisis 9, OMIM:613824; Nephronophthisis 9, MONDO:0013444",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:15.265783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEDD4L was added\ngene: NEDD4L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NEDD4L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NEDD4L were set to Periventricular nodular heterotopia 7, MONDO:0014966; Periventricular nodular heterotopia 7, OMIM:617201",
"entity_name": "NEDD4L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:14.854978+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NECTIN1 was added\ngene: NECTIN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Orofacial cleft 7, OMIM:225060; Cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:14.166743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFB11 was added\ngene: NDUFB11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:13.757239+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF2 was added\ngene: NDUFAF2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF2 were set to LEIGH SYNDROME",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:13.066377+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA10 was added\ngene: NDUFA10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA10 were set to LEIGH SYNDROME DUP",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:12.656371+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAXE was added\ngene: NAXE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAXE were set to Lethal Neurometabolic Disorder of Early Childhood",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:11.967082+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGLU was added\ngene: NAGLU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGLU were set to MUCOPOLYSACCHARIDOSIS TYPE 3B",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:11.557900+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NADSYN1 was added\ngene: NADSYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077; Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845",
"entity_name": "NADSYN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:11.072242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA15 was added\ngene: NAA15 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NAA15 were set to CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:10.460904+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYPN was added\ngene: MYPN was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336",
"entity_name": "MYPN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:10.046210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOD1 was added\ngene: MYOD1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYOD1 were set to 30403323; 26733463; 31260566\nPhenotypes for gene: MYOD1 were set to Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975",
"entity_name": "MYOD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:58:09.355593+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYOCD was added\ngene: MYOCD was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: MYOCD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYOCD were set to 31513549\nPhenotypes for gene: MYOCD were set to Megabladder, congenital, OMIM:618719; Megabladder, congenital, MONDO:0032879",
"entity_name": "MYOCD",
"entity_type": "gene"
}
]
}