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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2023",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2021",
"results": [
{
"created": "2019-12-30T20:07:54.363277+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to 29300242; 25724378; 28265383",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:07:30.587596+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLF1 were changed from to Congenital Dyserythropoietic Anemia Type IV, MIM#613673; severe nonspherocytic hemolytic anemia",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:06:45.952554+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLF1 were set to ",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:06:26.471722+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:05:30.158064+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIP11 as ready",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-30T20:05:30.143663+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trip11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.916172+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN4A was added\ngene: SCN4A was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN4A were set to Hyperkalemic Periodic Paralysis; Hypokalemic periodic paralysis, type 2, 613; Thyrotoxic Periodic Paralysis, Susceptibility To, 2; Hypokalemic Periodic Paralysis; Episodic weakness; Myotonia; Potassium-Aggravated Myotonia; Hyperkalemic periodic paralysis, type 2, 170500; Myasthenic syndrome, acetazolamide-responsive, 614198",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.841927+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: RYR1 were set to Malignant hyperthermia",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.768344+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ2 were set to Hypokalemic Periodic Paralysis, Type 2; Periodic paralysis; ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; Episodic weakness; Andersen syndrome",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.694048+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNA1 were set to EA1; Episodic ataxia/myokymia syndrome, 160120; Myokymia; Episodic Ataxia; Episodic Ataxia, Type 1",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.621793+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLCN1 was added\ngene: CLCN1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CLCN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN1 were set to Myotonia congenita, dominant, 160800; Hyperkalemic Periodic Paralysis; Myotonia Congenita; Myotonia; Myotonia congenita, recessive, 255700; Myotonia levior, recessive",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.547095+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CASQ1 was added\ngene: CASQ1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with casq1 aggregates",
"entity_name": "CASQ1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.473390+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNB1 was added\ngene: CACNB1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: CACNB1 was set to \nPublications for gene: CACNB1 were set to 27832566; 8943043; 29212769\nPhenotypes for gene: CACNB1 were set to ?Malignant hyperthermia susceptibility",
"entity_name": "CACNB1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.400982+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility type 5; Hypokalemic periodic paralysis, type 1, 170400",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.324450+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2A1 was added\ngene: ATP2A1 was added to Skeletal Muscle Channelopathies_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP2A1 were set to Brody myopathy 601003",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:53:57.278377+11:00",
"panel_name": "Skeletal Muscle Channelopathies_RMH",
"panel_id": 302,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Skeletal Muscle Channelopathies_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-30T18:32:52.698784+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:32:52.686854+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:32:49.698151+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGPL1 as Green List (high evidence)",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:32:49.686901+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:30:43.592924+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 28165343\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM#\t617575\nReview for gene: SGPL1 was set to GREEN\nAdded comment: Can present with hydrops antenatally. \nSources: Expert list",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:30:23.379634+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Hydrops fetalis_VCGS. Sources: Expert list\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 28165343\nPhenotypes for gene: SGPL1 were set to Nephrotic syndrome, type 14, MIM#\t617575\nReview for gene: SGPL1 was set to GREEN\nAdded comment: Can present with hydrops antenatally. \nSources: Expert list",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:27:24.192444+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RYR1 as ready",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:27:24.180720+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ryr1 has been classified as Green List (High Evidence).",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:27:21.382787+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RYR1 were changed from to Central core disease, MIM# 117000; Multiple pterygium syndrome",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:26:30.413844+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RYR1 were set to ",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:24:59.302939+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:24:27.556444+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RYR1: Rating: ; Mode of pathogenicity: None; Publications: 28543167, 26932181; Phenotypes: Central core disease, MIM# 117000, Multiple pterygium syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:21:06.889567+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAPSN as ready",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:21:06.876429+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Red List (Low Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:21:03.676838+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence 2, MIM# 618388 to Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:20:43.310264+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2, MIM# 618388",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:20:20.384216+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAPSN were set to ",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:59.884628+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAPSN as Red List (low evidence)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:59.860448+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Red List (Low Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:40.550105+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAPSN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:20.588254+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:00.542324+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAPSN as Red List (low evidence)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:19:00.508426+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rapsn has been classified as Red List (Low Evidence).",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:18.127119+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: 18252226; Phenotypes: Fetal akinesia deformation sequence 2, MIM# 618388; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.815799+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TEK was added\ngene: TEK was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TEK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TEK were set to Venous malformations, multiple cutaneous and mucosal 600195",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.744114+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBX4 was added\ngene: TBX4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TBX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TBX4 were set to SPS; Heritable pulmonary arterial hypertension; Small patella syndrome; Ischiocoxopodopatellar syndrome, 147891; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH",
"entity_name": "TBX4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.671917+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STAMBP was added\ngene: STAMBP was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.599483+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 137940",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.528258+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX17 was added\ngene: SOX17 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX17 were set to Heritable pulmonary arterial hypertension; HPAH",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.452055+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD9 was added\ngene: SMAD9 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2, 615342; Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; HPAH",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.378875+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.305579+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation 608354",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.233123+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTEN were set to Cowden syndrome; Bannayan-Riley-Ruvalcaba syndrome; Lhermitte-Duclos syndrome",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.161814+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PIK3CA was set to \nPhenotypes for gene: PIK3CA were set to Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.086715+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PIEZO1 was added\ngene: PIEZO1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PIEZO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIEZO1 were set to Lymphedema, hereditary, III",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:04.008535+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PDCD10 was added\ngene: PDCD10 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PDCD10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PDCD10 were set to Cerebral cavernous malformations 3",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.936299+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRIT1 was added\ngene: KRIT1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 116860; Cavernous malformations of CNS and retina 116860; Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations 116860",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.866532+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KIF11 was added\ngene: KIF11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KIF11 were set to Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation",
"entity_name": "KIF11",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.784159+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNK3 was added\ngene: KCNK3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KCNK3 were set to Heritable pulmonary arterial hypertension; IPAH; Pulmonary arterial hypertension; Pulmonary hypertension, primary, 4, 615344; Idiopathic pulmonary arterial hypertension; HPAH",
"entity_name": "KCNK3",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.712875+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GNA11 was set to \nPublications for gene: GNA11 were set to 30677207\nPhenotypes for gene: GNA11 were set to Somatic hemangioma",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.641625+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLMN was added\ngene: GLMN was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GLMN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GLMN were set to Glomuvenous malformations",
"entity_name": "GLMN",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.570311+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GJC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GJC2 were set to Lymphatic malformation 3",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.496128+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GDF2 was added\ngene: GDF2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GDF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GDF2 were set to Telangiectasia, hereditary hemorrhagic, type 5 615506",
"entity_name": "GDF2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.341084+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA2 were set to Lymphedema, primary, with myelodysplasia",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.269483+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXC2 was added\ngene: FOXC2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome",
"entity_name": "FOXC2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.199545+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLT4 was added\ngene: FLT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FLT4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FLT4 were set to Lymphedema, hereditary I (Milory disease)",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:03.126340+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FAT4 was added\ngene: FAT4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2",
"entity_name": "FAT4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.987356+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPHB4 was added\ngene: EPHB4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EPHB4 were set to Capillary malformation-arteriovenous malformation 2, MIM#618196",
"entity_name": "EPHB4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.919006+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ENG was added\ngene: ENG was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Epistaxis (HP:0000421); Spinal arteriovenous malformation (HP:0002390); Tongue telangiectasia (HP:0000227); Telangiectasia, hereditary hemorrhagic, type 1, 187300; Cerebral arteriovenous malformation (HP:0002408); Palate telangiectasia (HP:0002707); Hepatic arteriovenous malformation (HP:0006574; Lip telangiectasia (HP:0000214); Arteriovenous malformation (HP:0100026); Nasal mucosa telangiectasia (HP:0000434); Pulmonary arteriovenous malformation (HP:0006548); ); Finger pad telangiectasia (pulp not nail side); Gastrointestinal telangiectasia (HP:0002604)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.847588+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELMO2 was added\ngene: ELMO2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ELMO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELMO2 were set to Vascular malformation, primary intraosseous, MIM#606893",
"entity_name": "ELMO2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.778084+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF2AK4 was added\ngene: EIF2AK4 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: EIF2AK4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810; pulmonary capillary hemangiomatosis; Heritable pulmonary arterial hypertension; PVOD; IPAH; Pulmonary arterial hypertension; Idiopathic pulmonary arterial hypertension; PCH; HPAH",
"entity_name": "EIF2AK4",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.709680+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCM2 was added\ngene: CCM2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CCM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CCM2 were set to Cerebral cavernous malformations",
"entity_name": "CCM2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.638391+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, MIM#235510",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.568507+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CAV1 was added\ngene: CAV1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, 615343; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.499497+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMPR2 was added\ngene: BMPR2 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.432614+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Vascular Malformations_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMPR1B were set to 22374147\nPhenotypes for gene: BMPR1B were set to Idiopathic pulmonary arterial hypertension; IPAH",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.362161+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP13A3 was added\ngene: ATP13A3 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ATP13A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A3 were set to Heritable pulmonary arterial hypertension; HPAH",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.292378+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AQP1 was added\ngene: AQP1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: AQP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: AQP1 were set to Heritable pulmonary arterial hypertension; HPAH",
"entity_name": "AQP1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.221135+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ACVRL1 was added\ngene: ACVRL1 was added to Vascular Malformations_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to cerebral pulmonary arteriovenous malformation; pulmonary arteriovenous malformation; hepatic arteriovenous malformation; epistaxis; pulmonary arterial hypertension; Telangiectasia, hereditary hemorrhagic, type 2 600376; telangiectasia",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2019-12-30T18:18:02.171951+11:00",
"panel_name": "Vascular Malformations_RMH",
"panel_id": 300,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Vascular Malformations_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-30T17:58:35.979181+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUSK as ready",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:58:35.966351+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: musk has been classified as Green List (High Evidence).",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:58:33.142450+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUSK were changed from to Fetal akinesia deformation sequence 1, MIM# 208150",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:57:55.632456+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:57:10.792363+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUSK were set to 31750350; 25537362",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:56:51.251760+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUSK were set to 31750350; 25537362",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:56:30.917715+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUSK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:56:11.484356+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUSK were set to ",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:55:51.180569+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUSK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:55:19.003567+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUSK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31750350, 25537362; Phenotypes: Fetal akinesia deformation sequence 1, MIM# 208150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:48:42.429809+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:48:42.417904+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:47:12.480310+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:47:12.466209+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:46:14.506787+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLHL40 as ready",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:46:14.494524+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:46:10.517917+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL40 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:45:46.891266+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL40 were changed from to Nemaline myopathy 8, autosomal recessive, MIM# 615348",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:43:45.538737+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL40 were set to ",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:43:15.303483+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL40 as Amber List (moderate evidence)",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:43:15.290383+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl40 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:42:45.388990+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL40: Rating: AMBER; Mode of pathogenicity: None; Publications: 25721947; Phenotypes: Nemaline myopathy 8, autosomal recessive, MIM# 615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:37:42.764588+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIAA0586 as ready",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2019-12-30T17:37:42.753613+11:00",
"panel_name": "Hydrops fetalis_VCGS",
"panel_id": 116,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kiaa0586 has been classified as Red List (Low Evidence).",
"entity_name": "KIAA0586",
"entity_type": "gene"
}
]
}