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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1442",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1440",
"results": [
{
"created": "2021-01-17T10:51:34.360985+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KCNA1 was changed from to Other",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:51:27.589779+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:50:52.644624+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN1 as ready",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:50:52.635431+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn1 has been classified as Green List (High Evidence).",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:50:44.992170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN1 were changed from to Myotonia congenita, dominant 160800; Myotonia congenita, recessive 255700",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:50:27.416961+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN1 were set to ",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:50:07.913564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:49:07.684717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:47:51.888593+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN1 as ready",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:47:51.877464+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn1 has been classified as Green List (High Evidence).",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:47:45.596742+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN1 were set to ",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:47:32.661129+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 1379744, 7981750, 8533761; Phenotypes: Myotonia congenita, dominant 160800, Myotonia congenita, recessive 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:45:14.743022+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:45:14.733065+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:45:11.191384+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1S were set to ",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:44:57.939461+11:00",
"panel_name": "Skeletal Muscle Channelopathies",
"panel_id": 302,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 8004673, 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:41:09.011084+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-17T10:35:05.344833+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A2 as ready",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:35:05.334667+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a2 has been classified as Green List (High Evidence).",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:35:03.298406+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:34:53.861448+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A2 were set to ",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:34:44.285532+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:34:30.604299+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:50.401709+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL9A1 as ready",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:50.393536+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col9a1 has been classified as Green List (High Evidence).",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:48.329942+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:37.461536+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL9A1 were set to ",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:25.098956+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:27:13.783148+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16909383, 21421862, 31090205; Phenotypes: Stickler syndrome, type IV, MIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL9A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:25:15.327293+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL2A1 as ready",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:25:15.315201+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col2a1 has been classified as Green List (High Evidence).",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:25:09.208221+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL2A1 were changed from to Stickler syndrome, type I, MIM# 108300",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:24:59.958480+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:24:48.963120+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type I, MIM# 108300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:24:06.415255+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A2 as ready",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:24:06.406731+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a2 has been classified as Green List (High Evidence).",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:24:03.804049+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A2 were changed from to Stickler syndrome type 3",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:23:55.504999+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL11A2 were set to ",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:23:41.957192+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:23:31.992460+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25240749, 22796475, 20112039; Phenotypes: Stickler syndrome type 3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:18:25.933214+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A1 as ready",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:18:25.922888+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a1 has been classified as Green List (High Evidence).",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:18:22.926507+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A1 were changed from to Stickler syndrome, type II, MIM# 604841, MONDO:0011493",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:18:04.642231+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-01-17T10:17:53.455264+11:00",
"panel_name": "Stickler Syndrome",
"panel_id": 3114,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type II, MIM# 604841, MONDO:0011493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL11A1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:32:11.420075+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T22:31:42.371941+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMOD as ready",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:31:42.360145+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umod has been classified as Green List (High Evidence).",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:31:38.877354+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UMOD were changed from to Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD); Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Medullary cystic kidney disease 2, MIM# 603860",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:31:09.479033+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UMOD were set to ",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:30:34.062487+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:30:02.024837+11:00",
"panel_name": "Renal Tubulointerstitial Disease",
"panel_id": 199,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 32954071, 32847529, 32450155; Phenotypes: Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD), Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886, Medullary cystic kidney disease 2, MIM# 603860; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:19:59.907043+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTOR as ready",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:19:59.898211+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtor has been classified as Green List (High Evidence).",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:19:56.379005+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:19:29.538799+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTOR were set to ",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:18:26.307270+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:17:56.845767+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: None; Publications: 28892148; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:14:15.993920+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T22:13:26.070632+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:13:26.061873+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:13:22.274099+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:11:28.259617+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT3 was changed from to Other",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:11:03.912939+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:10:30.416759+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:09:58.870903+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22729224, 22729223, 32446860, 31441589; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:06:04.257691+11:00",
"panel_name": "Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Australian Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T22:02:46.596420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBG1 as ready",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:02:46.586202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubg1 has been classified as Green List (High Evidence).",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:02:34.797070+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:02:10.032031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBG1 were set to ",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:01:45.816246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:01:27.480760+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:00:12.682298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:00:12.672119+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T22:00:01.393629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB3 were changed from to Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039; Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:59:42.479661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB3 were set to ",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:59:16.139930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:58:58.385981+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20829227, 25059107, 33318778, 20074521; Phenotypes: Cortical dysplasia, complex, with other brain malformations 1, MIM# 614039, Fibrosis of extraocular muscles, congenital, 3A, MIM# 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:54:52.880778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2B as ready",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:54:52.871541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2b has been classified as Green List (High Evidence).",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:54:44.546088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB2B were changed from to Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:54:26.646786+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB2B were set to ",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:54:05.297176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:53:45.353240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465910, 22333901, 26732629, 33082561; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM# 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:52:08.027868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB as ready",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:52:08.019480+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb has been classified as Green List (High Evidence).",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:51:59.850904+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBB were changed from to Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:51:40.573632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBB were set to ",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:51:22.643001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:51:04.321381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246003, 32085672; Phenotypes: Cortical dysplasia, complex, with other brain malformations 6, MIM# 615771; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:10:49.667826+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-01-16T21:10:34.882678+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBG1 as ready",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:10:34.874917+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubg1 has been classified as Green List (High Evidence).",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:10:31.989639+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUBG1 were changed from to Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:10:09.560039+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUBG1 were set to ",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:09:38.576016+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TUBG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:09:08.743514+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23603762, 31086189; Phenotypes: Cortical dysplasia, complex, with other brain malformations 4, MIM# 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:07:49.779085+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2021-01-16T21:07:49.771601+11:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
}
]
}