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"count": 220817,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1978",
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{
"created": "2020-01-17T14:20:15.313919+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.240022+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Monogenic diabetes. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to {Porphyria variegata, susceptibility to}, 176200; Hemochromatosis, 235200; {Microvascular complications of diabetes 7}, 612635; {Porphyria cutanea tarda, susceptibility to}, 176100; {Alzheimer disease, susceptibility to}, 104300",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.160068+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Hemochromatosis, type 2B 613313",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:15.075460+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to Monogenic diabetes. Sources: Expert Review Removed,UKGTN,Expert Review Green\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism; Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.965490+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCK was added\ngene: GCK was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: GCK were set to Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.882507+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA6 was added\ngene: GATA6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GATA6 were set to 25706805; 25708516; 25356219; 22158542; 27098067; 23635550; 22806356; 24310933; 23223019; 22962692; 26210631; 24433315; 23639568\nPhenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS",
"entity_name": "GATA6",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.803343+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA4 was added\ngene: GATA4 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green,NHS GMS\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA4 were set to 27810688; 24696446; 20854389",
"entity_name": "GATA4",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.721811+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXP3 was added\ngene: FOXP3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.641323+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Monogenic diabetes. Sources: Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FOXC2 was set to Unknown\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome, 153400; Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.556364+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2S3 was added\ngene: EIF2S3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: EIF2S3 were set to 28055140\nPhenotypes for gene: EIF2S3 were set to microcephaly; MEHMO syndrome (X-linked NDM and microcephaly),300148; diabetes; epilepsy; hypogonadism; intellectual disability; hypogenitalism; central obesity",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.469669+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EIF2AK3 was added\ngene: EIF2AK3 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EIF2AK3 were set to 19837917\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome; Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.386536+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DYRK1B was added\ngene: DYRK1B was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: DYRK1B were set to Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); Abdominal obesity-metabolic syndrome 3, 615812",
"entity_name": "DYRK1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.302517+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC3 was added\ngene: DNAJC3 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC3 were set to Autosomal recessive juvenile-onset diabetes with central and peripheral neurodegeneration; ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192",
"entity_name": "DNAJC3",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.217427+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMXL2 was added\ngene: DMXL2 was added to Monogenic diabetes. Sources: Expert Review Amber,Other\nMode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DMXL2 were set to 22875945; 27657680; 25248098\nPhenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; OMIM:612186; ORPHA90636",
"entity_name": "DMXL2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.132709+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DCAF17 were set to 24464444; 19026396; 20507343\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome (hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness); Woodhouse-Sakati syndrome, 241080",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:14.049430+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ9 was added\ngene: COQ9 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: COQ9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ9 were set to Primary Coenzyme Q10 Deficiency; neonatal hyperglycaemia",
"entity_name": "COQ9",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.966330+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COQ2 was added\ngene: COQ2 was added to Monogenic diabetes. Sources: Expert Review Red,NHS GMS\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.888197+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CISD2 was added\ngene: CISD2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CISD2 were set to 25056293; 17846994\nPhenotypes for gene: CISD2 were set to Wolfram syndrome 2604928",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.806089+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIDEC was added\ngene: CIDEC was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIDEC were set to 20049731\nPhenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.732996+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEL was added\ngene: CEL was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CEL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620\nPhenotypes for gene: CEL were set to Diabetes and pancreatic exocrine dysfunction; Maturity-onset diabetes of the young, type VIII, 609812",
"entity_name": "CEL",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.647400+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: CAV1 was set to Unknown\nPublications for gene: CAV1 were set to 18211975\nPhenotypes for gene: CAV1 were set to Lipodystrophy, congenital generalized, type 3, 612526; Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.579831+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BSCL2 were set to 11479539\nPhenotypes for gene: BSCL2 were set to Berardinelli-Seip congenital lipodystrophy",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.470555+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLK was added\ngene: BLK was added to Monogenic diabetes. Sources: Illumina TruGenome Clinical Sequencing Services,Expert Review Red,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: BLK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: BLK were set to Maturity-onset diabetes of the young, type 11, 613375; Maturity Onset Diabetes of the Young",
"entity_name": "BLK",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.372700+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: APPL1 was added\ngene: APPL1 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: APPL1 were set to {Maturity-onset diabetes of the young, type 14}, 616511; Diabetes",
"entity_name": "APPL1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.293702+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALMS1 was added\ngene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.223031+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AKT2 was added\ngene: AKT2 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT2 were set to 17576055; 15166380; 17327441\nPhenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes",
"entity_name": "AKT2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.142675+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPS was added\ngene: AGPS was added to Monogenic diabetes. Sources: Expert Review Red\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Lipodystrophy, congenital generalized, type 1, 608594",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:13.063308+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGPAT2 was added\ngene: AGPAT2 was added to Monogenic diabetes. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGPAT2 were set to PubMed PMID: 11967537, PubMed PMID: 12765973.\nPhenotypes for gene: AGPAT2 were set to neonatal diabetes mellitus",
"entity_name": "AGPAT2",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:12.959042+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC8 was added\ngene: ABCC8 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to DIABETES MELLITUS, NONINSULIN-DEPENDENT; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6\nMode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-01-17T14:20:12.908913+11:00",
"panel_name": "Monogenic diabetes",
"panel_id": 3093,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Monogenic diabetes",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-01-17T13:34:10.143955+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS2L2 as ready",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:34:10.138553+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Two unrelated individuals reported, downgrade to Amber.",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:34:10.092116+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:33:48.274985+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:33:13.363983+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS2L2 were set to ",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:32:10.839302+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:31:27.084928+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2L2 as Amber List (moderate evidence)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:31:27.073312+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:30:16.994868+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK8IP3 as ready",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:30:16.980776+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:30:13.281655+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:30:13.268479+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:29:35.642902+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431\nReview for gene: MAPK8IP3 was set to GREEN\nAdded comment: 13 unrelated individuals reported, with de novo truncating or missense variants (one recurrent). Brain anomalies such as perisylvian polymicrogyria, cerebral or cerebellar atrophy, and hypoplasia of the corpus callosum were consistent among individuals harboring recurrent de novo missense variants. \nSources: Literature",
"entity_name": "MAPK8IP3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:27:07.773573+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1B as ready",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:27:07.761638+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1b has been classified as Green List (High Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:27:04.979002+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from to Intellectual disability; seizures; PVNH; dysmorphic features",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:26:38.863425+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAP1B were set to ",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:26:07.053105+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MAP1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:21:22.990803+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.8",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: GAS2L2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 30665704; Phenotypes: ?Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:20:07.311919+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1613",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: POLA1 as ready",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:20:07.300052+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1613",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Green List (High Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:20:02.221719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1613",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: POLA1 as Green List (high evidence)",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:20:02.209484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1613",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: pola1 has been classified as Green List (High Evidence).",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:19:13.243630+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1612",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: POLA1 was added\ngene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: POLA1 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: POLA1 were set to PMID: 31006512\nPhenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030\nReview for gene: POLA1 was set to GREEN\ngene: POLA1 was marked as current diagnostic\nAdded comment: Five unrelated families reported \nSources: Literature",
"entity_name": "POLA1",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:13:00.175718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.830",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "reviewed gene: GPC4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30982611; Phenotypes: Keipert syndrome OMIM# 301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:12:31.826751+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: GPC4 as ready",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:12:31.814985+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gpc4 has been classified as Green List (High Evidence).",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:11:37.175328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: GPC4 as Green List (high evidence)",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:11:37.163850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1611",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gpc4 has been classified as Green List (High Evidence).",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:10:57.580047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1610",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: GPC4 as Green List (high evidence)",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:10:57.567160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1610",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: gpc4 has been classified as Green List (High Evidence).",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:09:56.551754+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1609",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: GPC4 was added\ngene: GPC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GPC4 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: GPC4 were set to PMID: 30982611\nPhenotypes for gene: GPC4 were set to Keipert syndrome OMIM# 301026\nReview for gene: GPC4 was set to GREEN\ngene: GPC4 was marked as current diagnostic\nAdded comment: >3 unrelated individuals reported, functional studies in mice \nSources: Literature",
"entity_name": "GPC4",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:04:10.061645+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX3 as ready",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:04:10.049796+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx3 has been classified as Green List (High Evidence).",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:04:06.052463+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX3 as Green List (high evidence)",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:04:06.017638+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx3 has been classified as Green List (High Evidence).",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:03:17.129722+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX3 was added\ngene: TBX3 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: TBX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TBX3 were set to Ulnar-mammary syndrome, MIM#\t181450\nReview for gene: TBX3 was set to GREEN\nAdded comment: VSD and WPW described. \nSources: Expert list",
"entity_name": "TBX3",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:01:57.843198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.830",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KDM3B as ready",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:01:57.831301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.830",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:01:38.534863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.830",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: KDM3B as Green List (high evidence)",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:01:38.523259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.830",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kdm3b has been classified as Green List (High Evidence).",
"entity_name": "KDM3B",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:57.450344+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX2 as ready",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:57.438543+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:51.065616+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX2 as Amber List (moderate evidence)",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:51.054000+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:34.146187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: LEMD2 as ready",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:34.124421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:24.206891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Amber List (moderate evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:24.195396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:17.552930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: LEMD2 as Amber List (moderate evidence)",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:17.538202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.829",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: lemd2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T13:00:10.081853+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX2 was added\ngene: TBX2 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: TBX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX2 were set to 29726930\nPhenotypes for gene: TBX2 were set to Vertebral anomalies and variable endocrine and T-cell dysfunction, MIM#\t618223\nReview for gene: TBX2 was set to AMBER\nAdded comment: Two families reported; congenital heart disease is part of the phenotype. \nSources: Expert list",
"entity_name": "TBX2",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:59:40.235996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.828",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: LEMD2 was added\ngene: LEMD2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LEMD2 were set to PMID: 30905398\nPhenotypes for gene: LEMD2 were set to progeroid disorder\nReview for gene: LEMD2 was set to AMBER\nAdded comment: two reported unrelated individuals, limited functional evidence \nSources: Literature",
"entity_name": "LEMD2",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:57:25.764630+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO1 as ready",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:57:25.753430+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Green List (High Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:57:22.649291+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO1 as Green List (high evidence)",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:57:22.637789+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo1 has been classified as Green List (High Evidence).",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:56:44.619522+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ROBO1 was added\ngene: ROBO1 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: ROBO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO1 were set to 28592524\nPhenotypes for gene: ROBO1 were set to Tetralogy of Fallot; septal defects\nReview for gene: ROBO1 was set to GREEN\nAdded comment: Three families reported and a mouse model. Note mono allelic and bi-allelic variants in this gene also linked with pituitary abnormalities. \nSources: Expert list",
"entity_name": "ROBO1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:51:37.415831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLD1 as ready",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:51:37.403882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pld1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:50:57.325239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLD1 were changed from to Cardiac valvular defect, developmental, MIM#\t212093",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:50:09.449591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLD1 were set to ",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:49:43.394343+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.825",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FAM149B1 as ready",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:49:43.382757+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.825",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:49:08.260522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:48:49.379147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.824",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: FAM149B1 as Green List (high evidence)",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:48:49.367087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.824",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: fam149b1 has been classified as Green List (High Evidence).",
"entity_name": "FAM149B1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:48:33.468772+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLD1 as Amber List (moderate evidence)",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:48:33.457389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pld1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PLD1",
"entity_type": "gene"
},
{
"created": "2020-01-17T12:48:26.402458+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.65",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: FAM149B1 as ready",
"entity_name": "FAM149B1",
"entity_type": "gene"
}
]
}