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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1172",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1170",
"results": [
{
"created": "2021-10-24T17:54:25.775745+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPL5 were set to Diamond-Blackfan anemia 6 612561",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:25.475737+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPL11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia with cleft palate and abnormal thumbs; Diamond-Blackfan anemia 7 612562",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:25.178157+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to MECKEL SYNDROME TYPE 5; COACH SYNDROME; JOUBERT SYNDROME TYPE 7",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:24.665934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROR2 was added\ngene: ROR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ROR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT; ROR2-RELATED DISORDERS AR",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:24.368494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROGDI was added\ngene: ROGDI was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROGDI were set to KOHLSCHAYTTER-TANZ SYNDROME",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:24.068081+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROBO1 was added\ngene: ROBO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ROBO1 were set to 30712880; 28485101; 28592524\nPhenotypes for gene: ROBO1 were set to tetralogy of Fallot and septal defects",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:23.776570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNU4ATAC were set to MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I",
"entity_name": "RNU4ATAC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:23.265970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASET2 was added\ngene: RNASET2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASET2 were set to LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:22.965547+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to AICARDI-GOUTIERES SYNDROME 3",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:22.663037+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to AICARDI-GOUTIERES SYNDROME 2",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:22.367165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to AICARDI-GOUTIERES SYNDROME 4",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:21.860427+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to CARTILAGE-HAIR HYPOPLASIA",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:21.560368+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIT1 was added\ngene: RIT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RIT1 were set to 30712878; 28425981\nPhenotypes for gene: RIT1 were set to NOONAN SYNDROME 8",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:21.256952+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIPK4 was added\ngene: RIPK4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIPK4 were set to 28425981\nPhenotypes for gene: RIPK4 were set to POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE",
"entity_name": "RIPK4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:20.958525+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFX6 was added\ngene: RFX6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX6 were set to MARTINEZ-FRIAS SYNDROME",
"entity_name": "RFX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:20.449335+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RET were set to RENAL AGENESIS; MULTIPLE ENDOCRINE NEOPLASIA IIB",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:20.148607+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RERE was added\ngene: RERE was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RERE were set to Phenocopy of Proximal 1p36 Deletions",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:19.851934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REN was added\ngene: REN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REN were set to 31736371\nPhenotypes for gene: REN were set to Renal tubular dysgenesis 267430",
"entity_name": "REN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:19.553752+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RELN was added\ngene: RELN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RELN were set to LISSENCEPHALY 2",
"entity_name": "RELN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:19.047375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:18.749956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBPJ was added\ngene: RBPJ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RBPJ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RBPJ were set to 22883147; 28160419\nPhenotypes for gene: RBPJ were set to ADAMS OLIVER SYNDROME",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:18.451195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:18.153132+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:17.856691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:17.357262+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARS2 was added\ngene: RARS2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS2 were set to 26083569\nPhenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:17.058294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:16.759170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to FETAL AKINESIA DEFORMATION SEQUENCE; CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:16.462476+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAI1 were set to SMITH-MAGENIS SYNDROME",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:15.975923+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAF1 were set to NOONAN SYNDROME 5",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:15.660190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RAD21 were set to COHESINOPATHY",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:15.359872+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAC1 was added\ngene: RAC1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAC1 were set to 30712878; 28886345\nPhenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:15.063731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:14.558641+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:14.260146+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:13.964414+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB18 was added\ngene: RAB18 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:13.673271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: QRICH1 was added\ngene: QRICH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: QRICH1 were set to QRICH1 syndrome",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:13.167581+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:12.875204+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUF60 was added\ngene: PUF60 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PUF60 were set to PUF60 syndrome",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:12.646166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:12.349391+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTPN11 were set to 30266093; 28425981\nPhenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:11.850096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTHLH was added\ngene: PTHLH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTHLH were set to BRACHYDACTYLY, TYPE E2; CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:11.555678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION; EIKEN SKELETAL DYSPLASIA; CHONDRODYSPLASIA BLOMSTRAND TYPE; JANSEN METAPHYSEAL CHONDRODYSPLASIA",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:11.249504+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTF1A was added\ngene: PTF1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTF1A were set to PANCREATIC AGENESIS; DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:10.954344+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:10.655105+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:10.147925+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSPH was added\ngene: PSPH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY; NEU-LAXOVA",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:09.849111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:09.555079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRSS56 was added\ngene: PRSS56 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:09.256232+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRMT7 was added\ngene: PRMT7 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:08.756768+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKD1 was added\ngene: PRKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRKD1 were set to 32817298; 33919081; 27479907; 25713110\nPhenotypes for gene: PRKD1 were set to Syndromic congenital heart defects",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:08.458767+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:08.164072+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PRG4 was added\ngene: PRG4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome 208250",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:07.869333+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:07.368924+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2R5D was added\ngene: PPP2R5D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:07.146199+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP2R1A was added\ngene: PPP2R1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:06.849197+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:06.555360+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPIB was added\ngene: PPIB was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX 259440",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:06.056974+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:05.759322+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PORCN 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: PORCN were set to FOCAL DERMAL HYPOPLASIA",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:05.462310+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571",
"entity_name": "POR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:05.172532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT2 was added\ngene: POMT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:04.870953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMT1 was added\ngene: POMT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:04.377160+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMK was added\ngene: POMK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMK were set to 24556084; 24925318; 23519211\nPhenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A 615249",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:04.147730+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT2 was added\ngene: POMGNT2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:03.853508+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POMGNT1 was added\ngene: POMGNT1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:03.560304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3B was added\ngene: POLR3B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381",
"entity_name": "POLR3B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:03.064549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3A were set to Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090; LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:02.765765+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1D was added\ngene: POLR1D was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POLR1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POLR1D were set to TREACHER COLLINS SYNDROME TYPE 2",
"entity_name": "POLR1D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:02.472763+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR1C was added\ngene: POLR1C was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to TREACHER COLLINS SYNDROME TYPE 3",
"entity_name": "POLR1C",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:02.186417+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POGZ was added\ngene: POGZ was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: POGZ were set to INTELLECTUAL DISABILITY",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:01.660817+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POC1A was added\ngene: POC1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1A were set to PRIMORDIAL DWARFISM; SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME",
"entity_name": "POC1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:01.274618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to ATAXIA-OCULOMOTOR APRAXIA 4; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:00.961866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to CONGENITAL DISORDERS OF GLYCOSYLATION",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:00.667257+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to BRUCK SYNDROME TYPE 2",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:54:00.379532+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:59.862170+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLK4 was added\ngene: PLK4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLK4 were set to MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY",
"entity_name": "PLK4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:59.566983+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency 266200",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:59.348328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:59.056272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD2 was added\ngene: PKD2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PKD2 were set to Polycystic kidney disease 613095",
"entity_name": "PKD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:58.557931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD1L1 was added\ngene: PKD1L1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PKD1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKD1L1 were set to Laterality defects",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:58.262821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKD1 was added\ngene: PKD1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: PKD1 were set to 23624871; 20558538\nPhenotypes for gene: PKD1 were set to Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD); Polycystic kidney disease, 173900",
"entity_name": "PKD1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:57.973126+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITX3 was added\ngene: PITX3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PITX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PITX3 were set to CATARACT AUTOSOMAL DOMINANT; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CATARACT POSTERIOR POLAR TYPE 4",
"entity_name": "PITX3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:57.745349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PITX2 was added\ngene: PITX2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME TYPE 1; PETERS ANOMALY; RING DERMOID OF CORNEA; IRIDOGONIODYSGENESIS TYPE 2",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:57.457512+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R2 was added\ngene: PIK3R2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIK3R2 were set to 28425981\nPhenotypes for gene: PIK3R2 were set to MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:56.986870+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3R1 was added\ngene: PIK3R1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIK3R1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PIK3R1 were set to AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; SHORT SYNDROME",
"entity_name": "PIK3R1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:56.657716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PIK3CA were set to 30712880; 28425981\nPhenotypes for gene: PIK3CA were set to CLOVES: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI; HEMIMEGALENCEPHALY PIK3CA; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC 3",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:56.361334+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGV was added\ngene: PIGV was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGV were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:56.066969+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGT was added\ngene: PIGT was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGT were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:55.574111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGO was added\ngene: PIGO was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGO were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:55.350700+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGL was added\ngene: PIGL was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGL were set to ZUNICH NEUROECTODERMAL SYNDROME",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:55.056981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:54.762290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIEZO2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PIEZO2 were set to Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception; ARTHROGRYPOSIS, DISTAL, TYPE 3",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:54.467929+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO1 was added\ngene: PIEZO1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PIEZO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIEZO1 were set to 23695678; 30712880; 26333996; 28425981\nPhenotypes for gene: PIEZO1 were set to Congenital lymphatic dysplasia with hydrops and/or lymphoedema; hydrops fetalis gene 616843",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:53.972005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHOX2B was added\ngene: PHOX2B was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PHOX2B were set to CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE; NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:53.747613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHIP was added\ngene: PHIP was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PHIP were set to Developmental delay, ID, obesity and dysmorphic features",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:53.455777+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; NEU-LAXOVA SYNDROME",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:53.158838+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF8 was added\ngene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:52.662652+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:52.366861+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:53:52.146246+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP3 was added\ngene: PGAP3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp\nMode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP3 were set to HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4",
"entity_name": "PGAP3",
"entity_type": "gene"
}
]
}