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{
"count": 215348,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1777",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1775",
"results": [
{
"created": "2018-11-19T11:06:49.141846Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:48.874392Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 614213 for gene: KIF1A\nPublications for gene KIF1A were changed from 21376300 to 21820098",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:48.704125Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KIF1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KIF1A were set to 21376300\nPhenotypes for gene: KIF1A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 614255",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:48.488704Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIF11 was added\ngene: KIF11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIF11 were set to 15930898; 22284827\nPhenotypes for gene: KIF11 were set to AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:48.320316Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIDINS220 was added\ngene: KIDINS220 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KIDINS220 were set to 27005418\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity.",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:48.149600Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIAA1109 was added\ngene: KIAA1109 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1109 were set to 25558065\nPhenotypes for gene: KIAA1109 were set to Brain atrophy, Dandy Walker and Contractures\nMode of pathogenicity for gene: KIAA1109 was set to Other - please provide details in the comments",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.972315Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA0586 were set to 26026149; 26437029\nPhenotypes for gene: KIAA0586 were set to JOUBERT SYNDROME 614615",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.755338Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM6B was added\ngene: KDM6B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KDM6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDM6B were set to 21937992\nPhenotypes for gene: KDM6B were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: KDM6B was set to Other - please provide details in the comments",
"entity_name": "KDM6B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.584164Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM6A was added\ngene: KDM6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: KDM6A were set to 23076834; 22197486\nPhenotypes for gene: KDM6A were set to KABUKI SYNDROME 2 300867",
"entity_name": "KDM6A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.418326Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: KDM5C were set to 18203167; 19826449; 18697827; 21575681; 15586325; 16538222; 10982473\nPhenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.207947Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM5B was added\ngene: KDM5B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDM5B were set to 24307393; 28720891\nPhenotypes for gene: KDM5B were set to Autism",
"entity_name": "KDM5B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:47.039747Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM5A was added\ngene: KDM5A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KDM5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDM5A were set to 21937992\nPhenotypes for gene: KDM5A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: KDM5A was set to Other - please provide details in the comments",
"entity_name": "KDM5A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:46.871948Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KDM1A was added\ngene: KDM1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KDM1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KDM1A were set to 26656649\nPhenotypes for gene: KDM1A were set to Developmental delay and distinctive facial features\nMode of pathogenicity for gene: KDM1A was set to Other - please provide details in the comments",
"entity_name": "KDM1A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:46.542621Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 for gene: KCTD7\nPublications for gene KCTD7 were changed from to 17455289; 22693283; 22748208",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:46.367943Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to NEURONAL CEROID LIPOFUSCINOSIS",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:46.174495Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCTD1 was added\ngene: KCTD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCTD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCTD1 were set to 23541344\nPhenotypes for gene: KCTD1 were set to SCALP-EAR-NIPPLE SYNDROME\nMode of pathogenicity for gene: KCTD1 was set to Other - please provide details in the comments",
"entity_name": "KCTD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:45.840069Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959 for gene: KCNT1\nPublications for gene KCNT1 were changed from 23086397 to 23086397; 23086396",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:45.669889Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNT1 was added\ngene: KCNT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNT1 were set to 23086397\nPhenotypes for gene: KCNT1 were set to MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY\nMode of pathogenicity for gene: KCNT1 was set to Other - please provide details in the comments",
"entity_name": "KCNT1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:45.396496Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Intellectual Disability with or without Epileptic Encephalopathy for gene: KCNQ5",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:45.173667Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNQ5 was added\ngene: KCNQ5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KCNQ5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ5 were set to 28669405\nPhenotypes for gene: KCNQ5 were set to Intellectual Disability with or without Epileptic Encephalopathy",
"entity_name": "KCNQ5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.997535Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNQ3 was added\ngene: KCNQ3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNQ3 were set to KCNQ3 syndrome\nMode of pathogenicity for gene: KCNQ3 was set to Other - please provide details in the comments",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.735155Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720 for gene: KCNQ2\nPublications for gene KCNQ2 were changed from 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247 to 22275249; 12742592",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.521611Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNQ2 was added\ngene: KCNQ2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ2 were set to 11572947; 9425895; 15249611; 16235065; 11175290; 9430594; 17872363; 10323247\nPhenotypes for gene: KCNQ2 were set to BENIGN NEONATAL EPILEPSY TYPE 1 121200",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.356089Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.183789Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNMA1 was added\ngene: KCNMA1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNMA1 were set to 15937479\nPhenotypes for gene: KCNMA1 were set to GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446\nMode of pathogenicity for gene: KCNMA1 was set to Other - please provide details in the comments",
"entity_name": "KCNMA1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:44.009992Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNK9 was added\ngene: KCNK9 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) \nPhenotypes for gene: KCNK9 were set to BIRK-BAREL SYNDROME 612292\nMode of pathogenicity for gene: KCNK9 was set to Other - please provide details in the comments",
"entity_name": "KCNK9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:43.794546Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNJ6 was added\ngene: KCNJ6 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNJ6 were set to 25620207\nPhenotypes for gene: KCNJ6 were set to KEPPEN-LUBINSKY SYNDROME 614098\nMode of pathogenicity for gene: KCNJ6 was set to Other - please provide details in the comments",
"entity_name": "KCNJ6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:43.520580Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:43.211021Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090 for gene: KCNJ11\nPublications for gene KCNJ11 were changed from 9356020 to 8923010",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:43.040407Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNJ11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KCNJ11 were set to 9356020\nPhenotypes for gene: KCNJ11 were set to FAMILIAL HYPERINSULINISM 3272",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:42.862130Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ10 were set to 20651251; 19289823; 19420365; 21849804\nPhenotypes for gene: KCNJ10 were set to SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:42.684875Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNH5 was added\ngene: KCNH5 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KCNH5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNH5 were set to 23647072\nPhenotypes for gene: KCNH5 were set to INFANTILE EPILEPTIC ENCEPHALOPATHY\nMode of pathogenicity for gene: KCNH5 was set to Other - please provide details in the comments",
"entity_name": "KCNH5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:42.455865Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNH1 was added\ngene: KCNH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KCNH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNH1 were set to 25420144\nPhenotypes for gene: KCNH1 were set to TEMPLE BARRAISTER SYNDROME 611816\nMode of pathogenicity for gene: KCNH1 was set to Other - please provide details in the comments",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:42.192098Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LONG QT SYNDROME-5 613695 for gene: KCNE1",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:42.021796Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KCNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to JERVELL AND LANGE-NIELSEN SYNDROME TYPE 2 612347\nMode of pathogenicity for gene: KCNE1 was set to Other - please provide details in the comments",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:41.786959Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNC3 was added\ngene: KCNC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNC3 were set to SPINOCEREBELLAR ATAXIA TYPE 13 605259\nMode of pathogenicity for gene: KCNC3 was set to Other - please provide details in the comments",
"entity_name": "KCNC3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:41.585324Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNC1 was added\ngene: KCNC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNC1 were set to 25401298\nPhenotypes for gene: KCNC1 were set to EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187\nMode of pathogenicity for gene: KCNC1 was set to Other - please provide details in the comments",
"entity_name": "KCNC1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:41.405899Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNB1 was added\ngene: KCNB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNB1 were set to 25164438\nPhenotypes for gene: KCNB1 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056\nMode of pathogenicity for gene: KCNB1 was set to Other - please provide details in the comments",
"entity_name": "KCNB1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:41.066686Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes EPILEPTIC ENCEPHALOPATHY. for gene: KCNA2",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:40.872236Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KCNA2 was added\ngene: KCNA2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KCNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNA2 were set to 25751627\nPhenotypes for gene: KCNA2 were set to EPILEPTIC ENCEPHALOPATHY.",
"entity_name": "KCNA2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:40.697437Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KBTBD13 was added\ngene: KBTBD13 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KBTBD13 were set to 21104864; 21109227; 12805120\nPhenotypes for gene: KBTBD13 were set to NEMALINE MYOPATHY 6 609273\nMode of pathogenicity for gene: KBTBD13 was set to Other - please provide details in the comments",
"entity_name": "KBTBD13",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:40.352070Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes GENITOPATELLAR SYNDROME 606170 for gene: KAT6B\nPublications for gene KAT6B were changed from to 12210330; 12949978; 16761293; 12210329; 22265014",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:40.171966Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KAT6B was added\ngene: KAT6B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KAT6B were set to BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:39.994432Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KAT6A were set to 25728775; 30245513\nPhenotypes for gene: KAT6A were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:39.655650Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DEAFNESS, AUTOSOMAL RECESSIVE 89 613916 for gene: KARS\nPublications for gene KARS were changed from 20920668 to 23768514",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:39.483783Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KARS was added\ngene: KARS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KARS were set to 20920668\nPhenotypes for gene: KARS were set to CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B 613641",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:39.310395Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KANSL1 was added\ngene: KANSL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: KANSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KANSL1 were set to 22544367; 22544363\nPhenotypes for gene: KANSL1 were set to CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443",
"entity_name": "KANSL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:39.143323Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KANK1 was added\ngene: KANK1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: KANK1 was set to \nPublications for gene: KANK1 were set to 16301218\nPhenotypes for gene: KANK1 were set to CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:38.907222Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: JAM3 was added\ngene: JAM3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAM3 were set to 21109224; 23255084\nPhenotypes for gene: JAM3 were set to HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:38.741201Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAK3 were set to 10982185; 7659163; 11741532; 7481768\nPhenotypes for gene: JAK3 were set to SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:38.571951Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAGN1 were set to 25129144\nPhenotypes for gene: JAGN1 were set to SEVERE CONGENITAL NEUTROPENIA",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:38.403992Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: JAG1 was added\ngene: JAG1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: JAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: JAG1 were set to ALAGILLE SYNDROME 279357",
"entity_name": "JAG1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:38.189156Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IVD were set to 2063866; 15486829; 10677295; 1310317\nPhenotypes for gene: IVD were set to ISOVALERIC ACIDEMIA 243500",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:37.924776Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Gillespie Syndrome for gene: ITPR1",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:37.623550Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Gillespie Syndrome for gene: ITPR1\nPublications for gene ITPR1 were changed from 22986007; 27062503 to 27108798; 27108797",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:37.357106Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360 for gene: ITPR1\nPublications for gene ITPR1 were changed from 17932120 to 22986007; 27062503",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:37.191094Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ITPR1 were set to 17932120\nPhenotypes for gene: ITPR1 were set to SPINOCEREBELLAR ATAXIA TYPE15 606658",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:36.910261Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITGA8 was added\ngene: ITGA8 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA8 were set to RENAL HYPODYSPLASIA/APLASIA 1 191830",
"entity_name": "ITGA8",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:36.727804Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITGA7 was added\ngene: ITGA7 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA7 were set to 9590299\nPhenotypes for gene: ITGA7 were set to CONGENITAL MUSCULAR DYSTROPHY 607855",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:36.552145Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: ITGA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ITGA6 were set to 9185503\nPhenotypes for gene: ITGA6 were set to EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:36.386496Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITGA3 was added\ngene: ITGA3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA3 were set to 22512483\nPhenotypes for gene: ITGA3 were set to INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748",
"entity_name": "ITGA3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:36.159638Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITCH were set to 20170897\nPhenotypes for gene: ITCH were set to AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.991963Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISPD were set to 23217329; 22522420; 22522421; 7604843; 9492098\nPhenotypes for gene: ISPD were set to WALKER WARBURG SYNDROME 614643",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.827789Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IRX5 was added\ngene: IRX5 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: IRX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IRX5 were set to HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174\nMode of pathogenicity for gene: IRX5 was set to Other - please provide details in the comments",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.522162Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes POPLITEAL PTERYGIUM SYNDROME 119500 for gene: IRF6\nPublications for gene IRF6 were changed from 12219090; 18478600; 14618417; 14757865; 12920575; 19842205 to 12219090; 20803643",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.352913Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IRF6 was added\ngene: IRF6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IRF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRF6 were set to 12219090; 18478600; 14618417; 14757865; 12920575; 19842205\nPhenotypes for gene: IRF6 were set to VAN DER WOUDE SYNDROME 119300",
"entity_name": "IRF6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.186501Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IQSEC2 was added\ngene: IQSEC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IQSEC2 were set to 3177466; 7943039; 20473311\nPhenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1 309530\nMode of pathogenicity for gene: IQSEC2 was set to Other - please provide details in the comments",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:35.017312Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: INPPL1 was added\ngene: INPPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPPL1 were set to 23273569\nPhenotypes for gene: INPPL1 were set to OPSISMODYSPLASIA 258480",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:34.809804Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: INPP5K was added\ngene: INPP5K was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP5K were set to 28190459; 28190456\nPhenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability\nMode of pathogenicity for gene: INPP5K was set to Other - please provide details in the comments",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:34.551089Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes JOUBERT SYNDROME TYPE 1 213300 for gene: INPP5E\nPublications for gene INPP5E were changed from 19668215 to 19668216",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:34.388388Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP5E were set to 19668215\nPhenotypes for gene: INPP5E were set to MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:34.178892Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: INPP4A was added\ngene: INPP4A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: INPP4A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INPP4A were set to 21937992\nPhenotypes for gene: INPP4A were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION",
"entity_name": "INPP4A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:34.015689Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IMPAD1 was added\ngene: IMPAD1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPAD1 were set to 21549340\nPhenotypes for gene: IMPAD1 were set to CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:33.848081Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IL1RAPL1 were set to 16470793; 18801879; 10471494; 19012350\nPhenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21 300143",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:33.548847Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Autosomal Recessive Craniosynostosis for gene: IL11RA",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:33.381782Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IL11RA was added\ngene: IL11RA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL11RA were set to 24498618\nPhenotypes for gene: IL11RA were set to Crouzon-like craniosynostosis",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:33.220297Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IL11 was added\ngene: IL11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: IL11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL11 were set to 21741611\nPhenotypes for gene: IL11 were set to CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188\nMode of pathogenicity for gene: IL11 was set to Other - please provide details in the comments",
"entity_name": "IL11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:32.924937Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636 for gene: IKBKG\nPublications for gene IKBKG were changed from 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109 to 16818673",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:32.669349Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291 for gene: IKBKG\nPublications for gene IKBKG were changed from 10839543; 9450877 to 12045264; 117248; 11224521; 11047757; 16228229; 14726382; 11242109",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:32.393633Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301 for gene: IKBKG",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:32.087276Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes INCONTINENTIA PIGMENTI 308300 for gene: IKBKG\nPublications for gene IKBKG were changed from 15356572; 15577852 to 10839543; 9450877",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:31.922937Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IKBKG was set to X linked: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: IKBKG were set to 15356572; 15577852\nPhenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:31.630250Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ACROCAPITOFEMORAL DYSPLASIA 607778 for gene: IHH\nPublications for gene IHH were changed from 16871364; 19277064; 18629882; 12384778; 11455389; 12525541 to 12632327",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:31.459319Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IHH was added\ngene: IHH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IHH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IHH were set to 16871364; 19277064; 18629882; 12384778; 11455389; 12525541\nPhenotypes for gene: IHH were set to BRACHYDACTYLY, TYPE A1 112500\nMode of pathogenicity for gene: IHH was set to Other - please provide details in the comments",
"entity_name": "IHH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:31.293016Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGSF1 was added\ngene: IGSF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IGSF1 were set to 23143598\nPhenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:31.127263Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGHMBP2 were set to 11528396; 15290238\nPhenotypes for gene: IGHMBP2 were set to SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:30.901884Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGFBP7 was added\ngene: IGFBP7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGFBP7 were set to 12441727\nPhenotypes for gene: IGFBP7 were set to RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:30.630647Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes BECKWITH-WIEDEMANN SYNDROME 130650 for gene: IGF2",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:30.448981Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGF2 was added\ngene: IGF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: IGF2 were set to 26154720\nPhenotypes for gene: IGF2 were set to CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860",
"entity_name": "IGF2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:30.142946Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 for gene: IGF1R",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:29.967367Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IGF1R were set to 14657428\nPhenotypes for gene: IGF1R were set to INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:29.805490Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGF1 was added\ngene: IGF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IGF1 were set to 15769976; 8857020; 14684690\nPhenotypes for gene: IGF1 were set to INSULIN-LIKE GROWTH FACTOR I DEFICIENCY 608747",
"entity_name": "IGF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:29.585689Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IGBP1 was added\ngene: IGBP1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IGBP1 were set to AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472\nMode of pathogenicity for gene: IGBP1 was set to Other - please provide details in the comments",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:29.423084Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT80 were set to 17468754\nPhenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263\nMode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:29.256791Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFT43 was added\ngene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT43 were set to 21378380\nPhenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099\nMode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:28.996316Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes JEUNE SYNDROME for gene: IFT172",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:28.754641Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT172 were set to 24140113\nPhenotypes for gene: IFT172 were set to MAINZER-SALDINO SYNDROME 266920",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:28.592932Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT140 were set to 22503633\nPhenotypes for gene: IFT140 were set to MAINZER-SALDINO SYNDROME 266920",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:28.433328Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT122 were set to 19760620; 17022080; 20493458\nPhenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330\nMode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:06:28.212072Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IFITM5 was added\ngene: IFITM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IFITM5 were set to 22863195; 22863190\nPhenotypes for gene: IFITM5 were set to OSTEOGENESIS IMPERFECTA TYPE V 610967\nMode of pathogenicity for gene: IFITM5 was set to Other - please provide details in the comments",
"entity_name": "IFITM5",
"entity_type": "gene"
}
]
}