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{
"count": 216110,
"next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1774",
"previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=1772",
"results": [
{
"created": "2018-11-19T11:12:28.164316Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRIO was added\ngene: TRIO was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRIO were set to 26235986\nPhenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY\nMode of pathogenicity for gene: TRIO was set to Other - please provide details in the comments",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:27.843197Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to MULIBREY NANISM 213300",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:27.256488Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 for gene: TRIM32\nPublications for gene TRIM32 were changed from to 11822024; 17994549",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:26.869015Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11 209900",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:26.545822Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TREX1 were set to 17357087; 16845398\nPhenotypes for gene: TREX1 were set to AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:26.119428Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAPPC9 was added\ngene: TRAPPC9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC9 were set to 22549410; 20004763; 17120046; 20004764\nPhenotypes for gene: TRAPPC9 were set to MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:25.799544Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAPPC2 was added\ngene: TRAPPC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:25.404570Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAPPC12 was added\ngene: TRAPPC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TRAPPC12 was set to \nPublications for gene: TRAPPC12 were set to 28777934\nPhenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:25.023184Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC11 were set to 23830518\nPhenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:24.706055Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAIP was added\ngene: TRAIP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAIP were set to 26595769\nPhenotypes for gene: TRAIP were set to PRIMORDIAL DWARFISM 615272",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:24.114226Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Developmental Delay, Congenital Anomalies, and Dysmorphic Features for gene: TRAF7",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:23.722074Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TRAF7 was added\ngene: TRAF7 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TRAF7 were set to 29961569\nPhenotypes for gene: TRAF7 were set to Developmental delay, congenital malformations and dysmorphism\nMode of pathogenicity for gene: TRAF7 was set to Other - please provide details in the comments",
"entity_name": "TRAF7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:23.399419Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TPP1 were set to 9295267; 12414822; 10330339; 12376936; 10665500; 17959406\nPhenotypes for gene: TPP1 were set to NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:23.002218Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TPM2 was added\ngene: TPM2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TPM2 were set to 12592607\nPhenotypes for gene: TPM2 were set to ARTHROGRYPOSIS, DISTAL, TYPE 1\nMode of pathogenicity for gene: TPM2 was set to Other - please provide details in the comments",
"entity_name": "TPM2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:22.423905Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LIMB-MAMMARY SYNDROME 603543 for gene: TP63\nPublications for gene TP63 were changed from 11528512; 11929852; 16114047; 19530185; 16724007 to 11462173",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:21.860586Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 for gene: TP63\nPublications for gene TP63 were changed from 16740912; 12939657; 14684701; 17609671; 12766194 to 11528512; 11929852; 16114047; 19530185; 16724007",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:21.362789Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400 for gene: TP63",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:20.775772Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400 for gene: TP63\nPublications for gene TP63 were changed from 19239083; 11159940; 10886756 to 16740912; 12939657; 14684701; 17609671; 12766194",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:20.196306Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260 for gene: TP63\nPublications for gene TP63 were changed from 3366140; 10839977; 15736220 to 19239083; 11159940; 10886756",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:19.624848Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289 for gene: TP63\nPublications for gene TP63 were changed from 10535733; 9443880; 12838557; 10839977; 21204238 to 3366140; 10839977; 15736220",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:19.199669Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TP63 was added\ngene: TP63 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TP63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TP63 were set to 10535733; 9443880; 12838557; 10839977; 21204238\nPhenotypes for gene: TP63 were set to ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292",
"entity_name": "TP63",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:18.878061Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TOE1 was added\ngene: TOE1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOE1 were set to 28092684\nPhenotypes for gene: TOE1 were set to PONTOCEREBELLAR HYPOPLASIA",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:18.483885Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TNFRSF13B was added\ngene: TNFRSF13B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TNFRSF13B were set to 16007086\nPhenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:18.163224Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMTC3 was added\ngene: TMTC3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMTC3 were set to 27773428\nPhenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:17.760761Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMPRSS6 was added\ngene: TMPRSS6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMPRSS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS6 were set to 19592582; 19357398; 18596229; 18408718\nPhenotypes for gene: TMPRSS6 were set to IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200",
"entity_name": "TMPRSS6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:17.369726Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM70 was added\ngene: TMEM70 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 18953340; 21147908\nPhenotypes for gene: TMEM70 were set to MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:16.873909Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes NEPHRONOPHTHISIS TYPE 11 613550 for gene: TMEM67\nPublications for gene TMEM67 were changed from 17377820; 16415887 to 19508969",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:16.272129Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes JOUBERT SYNDROME TYPE 6 610688 for gene: TMEM67",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:15.661996Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MECKEL SYNDROME TYPE 3 607361 for gene: TMEM67\nPublications for gene TMEM67 were changed from to 17377820; 16415887",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:15.255515Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to COACH SYNDROM 216360",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:14.936373Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM5 was added\ngene: TMEM5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM5 were set to 23217329; 23519211\nPhenotypes for gene: TMEM5 were set to SEVERE COBBLESTONE LISSENCEPHALY 615041",
"entity_name": "TMEM5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:14.539195Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM260 was added\ngene: TMEM260 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM260 were set to 28318500\nPhenotypes for gene: TMEM260 were set to Neurodevelopmental, Cardiac, and Renal Syndrome",
"entity_name": "TMEM260",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:14.161332Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM237 were set to 22152675; 14760273; 17603801\nPhenotypes for gene: TMEM237 were set to JOUBERT SYNDROME 14 614424",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:13.847700Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM216 were set to 20036350; 20512146\nPhenotypes for gene: TMEM216 were set to JOUBERT SYNDROME 2 608091\nMode of pathogenicity for gene: TMEM216 was set to Other - please provide details in the comments",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:13.438471Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM199 was added\ngene: TMEM199 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM199 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM199 were set to 26833330\nPhenotypes for gene: TMEM199 were set to Disorder of Golgi homeostasis",
"entity_name": "TMEM199",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:13.129616Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM165 was added\ngene: TMEM165 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM165 were set to 22683087\nPhenotypes for gene: TMEM165 were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727",
"entity_name": "TMEM165",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:12.742911Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM135 was added\ngene: TMEM135 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM135 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM135 were set to 21937992\nPhenotypes for gene: TMEM135 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION\nMode of pathogenicity for gene: TMEM135 was set to Other - please provide details in the comments",
"entity_name": "TMEM135",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:12.427940Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM126B was added\ngene: TMEM126B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM126B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM126B were set to 27374774; 27374773\nPhenotypes for gene: TMEM126B were set to Muscle Weakness and Isolated Complex I Deficiency",
"entity_name": "TMEM126B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:12.038155Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMEM114 was added\ngene: TMEM114 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TMEM114 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM114 were set to 17492639\nPhenotypes for gene: TMEM114 were set to CONGENITAL AND JUVENILE CATARACT 611579",
"entity_name": "TMEM114",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:11.722912Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMCO1 was added\ngene: TMCO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TMCO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMCO1 were set to 20018682\nPhenotypes for gene: TMCO1 were set to CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980",
"entity_name": "TMCO1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:11.327825Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TM4SF20 was added\ngene: TM4SF20 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TM4SF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TM4SF20 were set to 23810381\nPhenotypes for gene: TM4SF20 were set to SPECIFIC LANGUAGE IMPAIRMENT 5 615432",
"entity_name": "TM4SF20",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:11.014969Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TLL1 was added\ngene: TLL1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TLL1 were set to 18830233\nPhenotypes for gene: TLL1 were set to ATRIAL SEPTAL DEFECT TYPE 6 613087\nMode of pathogenicity for gene: TLL1 was set to Other - please provide details in the comments",
"entity_name": "TLL1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:10.601503Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TLK2 was added\ngene: TLK2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TLK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TLK2 were set to 27479843\nPhenotypes for gene: TLK2 were set to TLK2 syndrome",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:10.201511Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TKT was added\ngene: TKT was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TKT were set to 27259054\nPhenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:09.888149Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276\nMode of pathogenicity for gene: TK2 was set to Other - please provide details in the comments",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:09.495319Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TINF2 were set to 18252230\nPhenotypes for gene: TINF2 were set to EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:08.909475Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MOHR-TRANEBJAERG SYNDROME 304700 for gene: TIMM8A",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:08.577808Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TIMM8A was added\ngene: TIMM8A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TIMM8A were set to JENSEN SYNDROME 311150",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:08.186824Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: THRA was added\ngene: THRA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: THRA were set to 22168587; 22494134\nPhenotypes for gene: THRA were set to HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:07.884231Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: THOC6 was added\ngene: THOC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: THOC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: THOC6 were set to 27295358; 23621916; 26739162\nPhenotypes for gene: THOC6 were set to Beaulieu-Boycott-Innes syndrome",
"entity_name": "THOC6",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:07.482563Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: THOC2 were set to 26166480\nPhenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12 300957\nMode of pathogenicity for gene: THOC2 was set to Other - please provide details in the comments",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:07.176972Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: THAP1 was added\ngene: THAP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: THAP1 were set to DYSTONIA 6, TORSION 602629",
"entity_name": "THAP1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:06.804389Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TH were set to 17696123; 8528210; 7814018; 9703425; 10585338; 21937992; 8817341; 9732974; 11246459\nPhenotypes for gene: TH were set to DOPA-RESPONSIVE DYSTONIA 605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:06.486692Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGIF1 was added\ngene: TGIF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGIF1 were set to HOLOPROSENCEPHALY 609637",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:05.873138Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163 for gene: TGFBR2",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:05.491802Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFBR2 were set to LOEYS-DIETZ SYNDROME",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:04.912103Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 608967 for gene: TGFBR1\nPublications for gene TGFBR1 were changed from 16596670; 15731757 to 16791849; 16928994; 18070134",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:04.269259Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes LOEYS-DIETZ SYNDROME TYPE 1A 609192 for gene: TGFBR1\nPublications for gene TGFBR1 were changed from 16791849; 16928994; 18070134 to 16596670; 15731757",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:03.945202Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFBR1 were set to 16791849; 16928994; 18070134\nPhenotypes for gene: TGFBR1 were set to LOEYS-DIETZ SYNDROME TYPE 2A 608967\nMode of pathogenicity for gene: TGFBR1 was set to Other - please provide details in the comments",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:03.531978Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFB3 were set to 24798638\nPhenotypes for gene: TGFB3 were set to LOEYS-DIETZ SYNDROME",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:03.211168Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TGFB2 were set to LOEYS-DIETZ SYNDROME, TYPE 4 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:02.834805Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGFB1 was added\ngene: TGFB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGFB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGFB1 were set to 10973241; 15103729; 11062463\nPhenotypes for gene: TGFB1 were set to CAMURATI-ENGELMANN DISEASE 131300\nMode of pathogenicity for gene: TGFB1 was set to Other - please provide details in the comments",
"entity_name": "TGFB1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:02.517603Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TGDS was added\ngene: TGDS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TGDS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TGDS were set to 25480037\nPhenotypes for gene: TGDS were set to CATEL-MANZKE SYNDROME 616145",
"entity_name": "TGDS",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:02.128396Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TFRC was added\ngene: TFRC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TFRC were set to 26642240\nPhenotypes for gene: TFRC were set to Combined immunodeficiency\nMode of pathogenicity for gene: TFRC was set to Other - please provide details in the comments",
"entity_name": "TFRC",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:01.824458Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TFAP2B was added\ngene: TFAP2B was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TFAP2B were set to 11505339; 10802654; 7645594\nPhenotypes for gene: TFAP2B were set to CHAR SYNDROME 169100\nMode of pathogenicity for gene: TFAP2B was set to Other - please provide details in the comments",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:01.449403Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TFAP2A was added\ngene: TFAP2A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TFAP2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TFAP2A were set to BRANCHIOOCULOFACIAL SYNDROME 113620\nMode of pathogenicity for gene: TFAP2A was set to Other - please provide details in the comments",
"entity_name": "TFAP2A",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:01.073308Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TERT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TERT were set to 17785587\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, autosomal recessive 4\nMode of pathogenicity for gene: TERT was set to Other - please provide details in the comments",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:00.764375Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TERC were set to 12090986\nPhenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:00.364096Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TELO2 were set to 27132593\nPhenotypes for gene: TELO2 were set to TELO2 Syndromic Intellectual Disability Disorder\nMode of pathogenicity for gene: TELO2 was set to Other - please provide details in the comments",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:12:00.057503Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TEK was added\ngene: TEK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TEK were set to 19888299; 7833915; 10369874\nPhenotypes for gene: TEK were set to VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195\nMode of pathogenicity for gene: TEK was set to Other - please provide details in the comments",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:59.676515Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECPR2 were set to 23176824\nPhenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS 615031",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:59.359359Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TDRD7 was added\ngene: TDRD7 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype\nMode of inheritance for gene: TDRD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TDRD7 were set to CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887\nMode of pathogenicity for gene: TDRD7 was set to Other - please provide details in the comments",
"entity_name": "TDRD7",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:58.954568Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTN3 were set to 22883145\nPhenotypes for gene: TCTN3 were set to MOHR-MAJEWSKI SYNDROME 258860",
"entity_name": "TCTN3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:58.640741Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:58.258397Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCTN1 was added\ngene: TCTN1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN1 were set to JOUBERT SYNDROME AND RELATED DISORDERS 194263",
"entity_name": "TCTN1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:57.940421Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCOF1 was added\ngene: TCOF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCOF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCOF1 were set to 15039977; 11013442; 9096354; 8563749; 12114482; 15214011; 14598341\nPhenotypes for gene: TCOF1 were set to TREACHER COLLINS SYNDROME TYPE 1 154500",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:57.556337Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCN2 were set to 7849710\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:57.222983Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCF4 was added\ngene: TCF4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF4 were set to 17436254; 17436255; 18728071\nPhenotypes for gene: TCF4 were set to PITT-HOPKINS SYNDROME 610954",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:56.833205Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCF20 was added\ngene: TCF20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF20 were set to 28135719; 25228304; 27436265\nPhenotypes for gene: TCF20 were set to TCF20 syndrome",
"entity_name": "TCF20",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:56.430013Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TCF12 was added\ngene: TCF12 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF12 were set to 23354436\nPhenotypes for gene: TCF12 were set to CORONAL CRANIOSYNOSTOSIS",
"entity_name": "TCF12",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:56.087334Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBXAS1 were set to GHOSAL HEMATODIAPHYSEAL SYNDROME 231095\nMode of pathogenicity for gene: TBXAS1 was set to Other - please provide details in the comments",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:55.686705Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX5 was added\ngene: TBX5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TBX5 were set to HOLT-ORAM SYNDROME 142900",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:55.376381Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX4 was added\ngene: TBX4 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX4 were set to 11303519; 15106123\nPhenotypes for gene: TBX4 were set to SMALL PATELLA SYNDROME 147891",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:55.012051Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX3 was added\ngene: TBX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX3 were set to 19938096; 9207801; 12116211; 12668170\nPhenotypes for gene: TBX3 were set to ULNAR-MAMMARY SYNDROME 181450",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:54.701849Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX22 was added\ngene: TBX22 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED 304011",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:54.316752Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX20 was added\ngene: TBX20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX20 were set to 17668378; 19762328\nPhenotypes for gene: TBX20 were set to ATRIAL SEPTAL DEFECT TYPE 4 611363",
"entity_name": "TBX20",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:54.018182Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX18 was added\ngene: TBX18 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX18 were set to 26235987\nPhenotypes for gene: TBX18 were set to CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:53.641194Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX15 was added\ngene: TBX15 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX15 were set to 19068278; 24039145\nPhenotypes for gene: TBX15 were set to Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature; Cousin Syndrome",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:53.303385Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBX1 was added\ngene: TBX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBX1 were set to 14585638\nPhenotypes for gene: TBX1 were set to 22Q11.2 DELETION SYNDROME 188400",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:52.920461Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBR1 was added\ngene: TBR1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBR1 were set to 23160955\nPhenotypes for gene: TBR1 were set to AUTISM 209850",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:52.354667Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Pierpont syndrome for gene: TBL1XR1\nPublications for gene TBL1XR1 were changed from 23160955; 25425123 to 28687524; 26769062; 30365874",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:52.049874Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBL1XR1 was added\ngene: TBL1XR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBL1XR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TBL1XR1 were set to 23160955; 25425123\nPhenotypes for gene: TBL1XR1 were set to Intellectual disability with autism spectrum disorder",
"entity_name": "TBL1XR1",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:51.673922Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBCK was added\ngene: TBCK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBCK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCK were set to 27040692; 27748029; 27040691\nPhenotypes for gene: TBCK were set to Severe Infantile Syndromic Encephalopathy",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:51.121231Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy for gene: TBCE\nPublications for gene TBCE were changed from 12389028 to 27666369",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:50.569393Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME 241410 for gene: TBCE",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:50.250020Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to 12389028\nPhenotypes for gene: TBCE were set to KENNY-CAFFEY SYNDROME TYPE 1 244460",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:49.873869Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBCD was added\ngene: TBCD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCD were set to 27666374; 27666370\nPhenotypes for gene: TBCD were set to Early-Onset Neurodegenerative Encephalopathy",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:49.393481Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes DOORS SYNDROME 220500 for gene: TBC1D24\nPublications for gene TBC1D24 were changed from 20727515; 10741954; 20797691 to 24291220",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:48.841978Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added phenotypes MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021 for gene: TBC1D24\nPublications for gene TBC1D24 were changed from to 20727515; 10741954; 20797691",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2018-11-19T11:11:48.433120Z",
"panel_name": "DDG2P",
"panel_id": 484,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to NON SYNDROMAL HEARING LOSS 614617",
"entity_name": "TBC1D24",
"entity_type": "gene"
}
]
}