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{
"count": 216110,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1778",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1776",
"results": [
{
"created": "2018-11-19T11:10:00.397127Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM8A were set to 22366785\nPhenotypes for gene: RBM8A were set to THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:10:00.140486Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RBM28 was added\ngene: RBM28 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM28 were set to 18439547\nPhenotypes for gene: RBM28 were set to ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079\nMode of pathogenicity for gene: RBM28 was set to Other - please provide details in the comments",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:59.809630Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RBM10 was added\ngene: RBM10 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RBM10 were set to 20451169; 5410571\nPhenotypes for gene: RBM10 were set to TARP SYNDROME 311900",
"entity_name": "RBM10",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:59.549403Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAX were set to 14662654; 18783408\nPhenotypes for gene: RAX were set to MICROPHTHALMIA ISOLATED TYPE 3 611038",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:59.046999Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 for gene: RASA1\nPublications for gene RASA1 were changed from 14639529 to 18363760; 14639529",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:58.776171Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RASA1 were set to 14639529\nPhenotypes for gene: RASA1 were set to PARKES WEBER SYNDROME 608355",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:58.454057Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RARS2 was added\ngene: RARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS2 were set to PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:58.049029Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA for gene: RARB",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:57.664592Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RARB was added\ngene: RARB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RARB were set to 24075189\nPhenotypes for gene: RARB were set to MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA",
"entity_name": "RARB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:57.165885Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes FETAL AKINESIA DEFORMATION SEQUENCE 208150 for gene: RAPSN\nPublications for gene RAPSN were changed from 11791205 to 18179903",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:56.904816Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAPSN were set to 11791205\nPhenotypes for gene: RAPSN were set to CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:56.598664Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RANBP2 was added\ngene: RANBP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RANBP2 were set to 19118815\nPhenotypes for gene: RANBP2 were set to ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648\nMode of pathogenicity for gene: RANBP2 was set to Other - please provide details in the comments",
"entity_name": "RANBP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:56.177824Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RALGDS was added\ngene: RALGDS was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: RALGDS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RALGDS were set to 21937992\nPhenotypes for gene: RALGDS were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: RALGDS was set to Other - please provide details in the comments",
"entity_name": "RALGDS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:55.918416Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAI1 was added\ngene: RAI1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\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 182290",
"entity_name": "RAI1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:55.586533Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAF1 were set to 17603483\nPhenotypes for gene: RAF1 were set to NOONAN SYNDROME 5 611553\nMode of pathogenicity for gene: RAF1 was set to Other - please provide details in the comments",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:55.330645Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD51C were set to 20400963\nPhenotypes for gene: RAD51C were set to FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390\nMode of pathogenicity for gene: RAD51C was set to Other - please provide details in the comments",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:54.981936Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAD51 was added\ngene: RAD51 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAD51 were set to 21242494\nPhenotypes for gene: RAD51 were set to MIRROR MOVEMENTS 2 614508",
"entity_name": "RAD51",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:54.722887Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAD50 was added\ngene: RAD50 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAD50 were set to 19409520\nPhenotypes for gene: RAD50 were set to NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078",
"entity_name": "RAD50",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:54.383349Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAD21 was added\ngene: RAD21 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAD21 were set to 22633399\nPhenotypes for gene: RAD21 were set to COHESINOPATHY 614701",
"entity_name": "RAD21",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:54.122321Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAC1 was added\ngene: RAC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAC1 were set to 28886345\nPhenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes\nMode of pathogenicity for gene: RAC1 was set to Other - please provide details in the comments",
"entity_name": "RAC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:53.866588Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RABL6 was added\ngene: RABL6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: RABL6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RABL6 were set to 21937992\nPhenotypes for gene: RABL6 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: RABL6 was set to Other - please provide details in the comments",
"entity_name": "RABL6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:53.544551Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP2 were set to 16532399\nPhenotypes for gene: RAB3GAP2 were set to MARTSOLF SYNDROME 212720",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:53.269287Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB3GAP1 were set to 15696165; 10465117; 20512159; 15216543\nPhenotypes for gene: RAB3GAP1 were set to WARBURG MICRO SYNDROME TYPE 1 600118",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:52.924841Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB39B was added\ngene: RAB39B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: RAB39B were set to 11050621; 20159109; 25434005\nPhenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271",
"entity_name": "RAB39B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:52.673741Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB23 were set to 17503333; 20358613\nPhenotypes for gene: RAB23 were set to ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:52.307525Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB18 was added\ngene: RAB18 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAB18 were set to 21473985\nPhenotypes for gene: RAB18 were set to WARBURG MICRO SYNDROME TYPE 3 614222",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:52.054638Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB11B was added\ngene: RAB11B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RAB11B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAB11B were set to 29106825\nPhenotypes for gene: RAB11B were set to INTELLECTUAL DISABILITY\nMode of pathogenicity for gene: RAB11B was set to Other - please provide details in the comments",
"entity_name": "RAB11B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:51.719604Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB11A was added\ngene: RAB11A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: RAB11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RAB11A were set to 29100083\nPhenotypes for gene: RAB11A were set to Epilepsy and intellectual disability\nMode of pathogenicity for gene: RAB11A was set to Other - please provide details in the comments",
"entity_name": "RAB11A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:51.457853Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: QRICH1 was added\ngene: QRICH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: QRICH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: QRICH1 were set to 28692176\nPhenotypes for gene: QRICH1 were set to QRICH1 syndrome",
"entity_name": "QRICH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:51.187823Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: QKI was added\ngene: QKI was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: QKI was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: QKI were set to 20082458\nPhenotypes for gene: QKI were set to INTELLECTUAL DISABILITY",
"entity_name": "QKI",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:50.867853Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QDPR were set to 9341885; 9744478; 2116088; 8326489; 11153907\nPhenotypes for gene: QDPR were set to BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:50.611236Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: QARS was added\ngene: QARS was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: QARS were set to 24656866\nPhenotypes for gene: QARS were set to MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760\nMode of pathogenicity for gene: QARS was set to Other - please provide details in the comments",
"entity_name": "QARS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:50.262816Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PYROXD1 was added\ngene: PYROXD1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYROXD1 were set to 27745833\nPhenotypes for gene: PYROXD1 were set to Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:50.010599Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PYGL was added\ngene: PYGL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYGL were set to 9529348; 9536091\nPhenotypes for gene: PYGL were set to GLYCOGEN STORAGE DISEASE TYPE VI 232700",
"entity_name": "PYGL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:49.702070Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PYCR2 was added\ngene: PYCR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR2 were set to 25865492\nPhenotypes for gene: PYCR2 were set to POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME\nMode of pathogenicity for gene: PYCR2 was set to Other - please provide details in the comments",
"entity_name": "PYCR2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:49.455856Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PYCR1 were set to 18304158; 18348262; 16045708; 19576563; 19648921; 11424136\nPhenotypes for gene: PYCR1 were set to CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:49.196949Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PXDN was added\ngene: PXDN was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PXDN were set to 21907015\nPhenotypes for gene: PXDN were set to CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA",
"entity_name": "PXDN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:48.876185Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PURA was added\ngene: PURA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PURA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PURA were set to 25342064\nPhenotypes for gene: PURA were set to INTELLECTUAL DISABILITY",
"entity_name": "PURA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:48.401490Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PUF60 syndrome for gene: PUF60",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:48.139293Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PUF60 was added\ngene: PUF60 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PUF60 were set to 24140112; 27804958\nPhenotypes for gene: PUF60 were set to 8Q24.3 DELETION-LIKE",
"entity_name": "PUF60",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:47.896486Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTS were set to 10220141; 8178819; 9450907\nPhenotypes for gene: PTS were set to 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:47.584404Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTPRF was added\ngene: PTPRF was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PTPRF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPRF were set to 24781087\nPhenotypes for gene: PTPRF were set to ATHELIA",
"entity_name": "PTPRF",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:47.318697Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTPN14 was added\ngene: PTPN14 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN14 were set to 20826270\nPhenotypes for gene: PTPN14 were set to CHOANAL ATRESIA AND LYMPHEDEMA 613611",
"entity_name": "PTPN14",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:46.862260Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NOONAN SYNDROME 1 163950 for gene: PTPN11\nPublications for gene PTPN11 were changed from to 12529711; 19449407; 12161469; 15384080; 15240615; 11704759; 12325025; 11992261",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:46.616697Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1 151100\nMode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:46.157068Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BRACHYDACTYLY, TYPE E2 613382 for gene: PTHLH\nPublications for gene PTHLH were changed from to 20170896",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:45.827487Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTHLH was added\ngene: PTHLH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTHLH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTHLH were set to CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS",
"entity_name": "PTHLH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:45.439314Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 for gene: PTH1R\nPublications for gene PTH1R were changed from 15525660 to 10523019; 17164305; 3975110; 9649554; 9745456",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:44.958535Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EIKEN SKELETAL DYSPLASIA 600002 for gene: PTH1R\nPublications for gene PTH1R were changed from 7701349; 10487664; 8703170; 15240651 to 15525660",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:44.482080Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400 for gene: PTH1R\nPublications for gene PTH1R were changed from 19061984 to 7701349; 10487664; 8703170; 15240651",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:44.220838Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PTH1R were set to 19061984\nPhenotypes for gene: PTH1R were set to PRIMARY FAILURE OF TOOTH ERUPTION 125350",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:43.891424Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTH was added\ngene: PTH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PTH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTH were set to 2212001; 1302009; 10523031; 3005800\nPhenotypes for gene: PTH were set to FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:43.489248Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PANCREATIC AGENESIS for gene: PTF1A\nPublications for gene PTF1A were changed from 10507728; 21749365; 15543146 to 24212882",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:43.161131Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTF1A was added\ngene: PTF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTF1A were set to 10507728; 21749365; 15543146\nPhenotypes for gene: PTF1A were set to DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:42.699406Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MACROCEPHALY/AUTISM SYNDROME 605309 for gene: PTEN\nPublications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 23160955; 15805158; 17286265",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:42.300724Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PROTEUS SYNDROME 176920 for gene: PTEN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:41.811273Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LHERMITTE-DUCLOS DISEASE 158350 for gene: PTEN\nPublications for gene PTEN were changed from 11748304 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:41.302080Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950 for gene: PTEN\nPublications for gene PTEN were changed from 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211 to 11748304",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:40.908008Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes COWDEN DISEASE 158350 for gene: PTEN\nPublications for gene PTEN were changed from 9832032; 12844284; 9241266 to 10353779; 9425889; 11238682; 9832031; 9140396; 10777358; 10051160; 9259288; 12844284; 9467011; 12471211",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:40.588213Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTEN were set to 9832032; 12844284; 9241266\nPhenotypes for gene: PTEN were set to BANNAYAN-ZONANA SYNDROME 153480",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:40.329771Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTDSS1 were set to 24241535\nPhenotypes for gene: PTDSS1 were set to LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050\nMode of pathogenicity for gene: PTDSS1 was set to Other - please provide details in the comments",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:40.013260Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTCHD1 was added\ngene: PTCHD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PTCHD1 were set to 20844286\nPhenotypes for gene: PTCHD1 were set to AUTISM/ID 300830",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:39.612515Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BASAL CELL NEVUS SYNDROME 109400 for gene: PTCH1\nPublications for gene PTCH1 were changed from 11941477; 17001668 to 12900905; 8681379; 22572734; 8658145",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:39.274719Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTCH1 were set to 11941477; 17001668\nPhenotypes for gene: PTCH1 were set to HOLOPROSENCEPHALY-7 610828",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:38.785478Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NEU-LAXOVA 256520 for gene: PSPH\nPublications for gene PSPH were changed from 9222972; 14673469 to 25152457",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:38.525014Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSPH was added\ngene: PSPH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSPH were set to 9222972; 14673469\nPhenotypes for gene: PSPH were set to PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023",
"entity_name": "PSPH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:38.278299Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSMD12 was added\ngene: PSMD12 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PSMD12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PSMD12 were set to 28388435\nPhenotypes for gene: PSMD12 were set to Global Developmental Delay, Multiple Malformations",
"entity_name": "PSMD12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:37.956336Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSMB8 was added\ngene: PSMB8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMB8 were set to 21852578; 21881205; 21129723; 21953331\nPhenotypes for gene: PSMB8 were set to NAKAJO SYNDROME 256040\nMode of pathogenicity for gene: PSMB8 was set to Other - please provide details in the comments",
"entity_name": "PSMB8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:37.503039Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NEU-LAXOVA SYNDROME 256520 for gene: PSAT1",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:37.197083Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSAT1 was added\ngene: PSAT1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAT1 were set to 17436247\nPhenotypes for gene: PSAT1 were set to PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992",
"entity_name": "PSAT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:36.931083Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSAP were set to 15773042\nPhenotypes for gene: PSAP were set to ATYPICAL KRABBE DISEASE 611722",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:36.574717Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRUNE1 was added\ngene: PRUNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRUNE1 were set to 28211990; 28334956\nPhenotypes for gene: PRUNE1 were set to PEHO Like condition",
"entity_name": "PRUNE1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:36.249056Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRSS56 was added\ngene: PRSS56 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRSS56 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRSS56 were set to 19526372; 21397065\nPhenotypes for gene: PRSS56 were set to MICROPHTHALMIA ISOLATED TYPE 6 613517",
"entity_name": "PRSS56",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:35.923326Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRSS12 was added\ngene: PRSS12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRSS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRSS12 were set to 12459588\nPhenotypes for gene: PRSS12 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500",
"entity_name": "PRSS12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:35.525240Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:35.191826Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRRX1 was added\ngene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PRRX1 were set to 22211708; 23444262\nPhenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650\nMode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments",
"entity_name": "PRRX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:34.723160Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 for gene: PRRT2\nPublications for gene PRRT2 were changed from 21937992 to 22543779; 22243967; 22744660",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:34.476879Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRRT2 was added\ngene: PRRT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRRT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PRRT2 were set to 21937992\nPhenotypes for gene: PRRT2 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:34.005123Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ARTS SYNDROME 301835 for gene: PRPS1\nPublications for gene PRPS1 were changed from 6243137; 171280; 7593598; 2423135 to 22246954; 17701896; 8498830",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:33.610403Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661 for gene: PRPS1\nPublications for gene PRPS1 were changed from 10503584; 8968763; 15240907; 20021999 to 6243137; 171280; 7593598; 2423135",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:33.141134Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DEAFNESS X-LINKED TYPE 1 304500 for gene: PRPS1\nPublications for gene PRPS1 were changed from 17701900 to 10503584; 8968763; 15240907; 20021999",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:32.818490Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PRPS1 were set to 17701900\nPhenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:32.570470Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:32.321982Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRMT9 was added\ngene: PRMT9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PRMT9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT9 were set to 21937992\nPhenotypes for gene: PRMT9 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: PRMT9 was set to Other - please provide details in the comments",
"entity_name": "PRMT9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:32.002119Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRMT7 was added\ngene: PRMT7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRMT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRMT7 were set to 26437029\nPhenotypes for gene: PRMT7 were set to Pseudohypoparathyroidism-like disorder",
"entity_name": "PRMT7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:31.752796Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRKD1 was added\ngene: PRKD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRKD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PRKD1 were set to Syndromic congenital heart defects\nMode of pathogenicity for gene: PRKD1 was set to Other - please provide details in the comments",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:31.419815Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRKAR1A were set to 22464252; 21651393; 22464250\nPhenotypes for gene: PRKAR1A were set to ACRODYSOSTOSIS 101800\nMode of pathogenicity for gene: PRKAR1A was set to Other - please provide details in the comments",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:31.180686Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PREPL was added\ngene: PREPL was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PREPL were set to 24610330\nPhenotypes for gene: PREPL were set to HYPOTONIA-CYSTINURIA SYNDROME 606407",
"entity_name": "PREPL",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:30.867086Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRDM6 was added\ngene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRDM6 were set to 27181681\nPhenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus.\nMode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments",
"entity_name": "PRDM6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:30.618128Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRDM12 was added\ngene: PRDM12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM12 were set to 26005867\nPhenotypes for gene: PRDM12 were set to HEREDITARY SENSORY & AUTONOMIC NEUROPATHY TYPE VIII 616488",
"entity_name": "PRDM12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:30.364781Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PQBP1 were set to 16740914; 13981686; 3177467; 16493439; 7943045; 14634649\nPhenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1 309500",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:30.018769Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:29.772108Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPP3CA was added\ngene: PPP3CA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: PPP3CA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP3CA were set to 28942967\nPhenotypes for gene: PPP3CA were set to Severe Neurodevelopmental Disease with Seizures\nMode of pathogenicity for gene: PPP3CA was set to Other - please provide details in the comments",
"entity_name": "PPP3CA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:29.448889Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPP2R5D was added\ngene: PPP2R5D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R5D were set to 25533962\nPhenotypes for gene: PPP2R5D were set to INTELLECTUAL DISABILITY\nMode of pathogenicity for gene: PPP2R5D was set to Other - please provide details in the comments",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:29.194684Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPP2R1A was added\ngene: PPP2R1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R1A were set to 25533962\nPhenotypes for gene: PPP2R1A were set to INTELLECTUAL DISABILITY\nMode of pathogenicity for gene: PPP2R1A was set to Other - please provide details in the comments",
"entity_name": "PPP2R1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:28.943196Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPP1R15B was added\ngene: PPP1R15B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPP1R15B were set to 26307080\nPhenotypes for gene: PPP1R15B were set to Severe microcephaly, short stature and intellectual disability",
"entity_name": "PPP1R15B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:28.635110Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1CB were set to 27264673\nPhenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair\nMode of pathogenicity for gene: PPP1CB was set to Other - please provide details in the comments",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:28.388620Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPM1D was added\ngene: PPM1D was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPM1D were set to 28343630; 28135719\nPhenotypes for gene: PPM1D were set to PPM1D syndrome",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:28.057108Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PPA2 was added\ngene: PPA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPA2 were set to 27523598; 27523597\nPhenotypes for gene: PPA2 were set to Sudden arrhythmic cardiac death after infectious or alcohol trigger\nMode of pathogenicity for gene: PPA2 was set to Other - please provide details in the comments",
"entity_name": "PPA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:09:27.813484Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POU1F1 were set to 12629113; 7670563; 9626142; 2634610; 16968807; 11297581; 1472057; 15928241; 1302000; 1509262; 8768831\nPhenotypes for gene: POU1F1 were set to POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038",
"entity_name": "POU1F1",
"entity_type": "gene"
}
]
}