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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=937",
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"results": [
{
"created": "2022-03-15T16:56:36.119124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ICAM4 were changed from to [Blood group, Landsteiner-Wiener] 111250",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:56:15.486129+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ICAM4 as Red List (low evidence)",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:56:15.470670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: icam4 has been classified as Red List (Low Evidence).",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:55:57.423828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ICAM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Landsteiner-Wiener] 111250; Mode of inheritance: None",
"entity_name": "ICAM4",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:49.744132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACACA as ready",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:49.732280+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Red List (Low Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:41.965983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACACA were changed from to Acetyl-CoA carboxylase deficiency MIM#613933",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:53:19.327382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACACA were set to ",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:59.583737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACACA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:37.610160+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACACA as Red List (low evidence)",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:52:37.601026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acaca has been classified as Red List (Low Evidence).",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:40.975719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:40.964416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:03.630626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCG8 as ready",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:48:03.618946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcg8 has been classified as Green List (High Evidence).",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:47:55.652768+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG8 were changed from to Sitosterolemia 1, MIM#210250",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:47:32.681259+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCG8 were set to ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:47:14.725895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:42:31.011827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QTNF5 were set to ",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:39:17.721234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1GALT1C1 were set to ",
"entity_name": "C1GALT1C1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:36:34.025305+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAPK1 as ready",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:36:34.016013+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mapk1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:36:24.972793+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 13 MIM#619087; Mode of inheritance: None",
"entity_name": "MAPK1",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:33:39.871515+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TET3 as ready",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:33:39.859285+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:33:34.818919+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TET3 as Amber List (moderate evidence)",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T16:33:34.809300+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tet3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TET3",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:29:58.241339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACACA: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34552920, 10677481, 16717184; Phenotypes: Acetyl-CoA carboxylase deficiency MIM#613933; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACACA",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:04:36.502043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACAD8 as ready",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:04:36.485898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acad8 has been classified as Green List (High Evidence).",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:01:04.285114+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACAD8 were set to ",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:00:55.253715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C2 were changed from C2 deficiency MIM#217000 to C2 deficiency MIM#217000",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:00:51.879127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11394",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C2 were set to 16026838; 8621452; 35272074; 32385807",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:00:42.634850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11393",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACAD8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-03-15T15:00:03.731071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11392",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACAD8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34544473; Phenotypes: Isobutyryl-CoA dehydrogenase deficiency MIM#611283; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACAD8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:49.037902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11392",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C2 were changed from to C2 deficiency MIM#217000",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:38.043701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11391",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C2 were set to ",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:36.948421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11391",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C2 as ready",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:36.927771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11391",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c2 has been classified as Green List (High Evidence).",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:33.183391+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11391",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:57:05.743468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11390",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C2: Changed rating: GREEN",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:56:17.359198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11390",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ABL1 were changed from to Congenital heart defects and skeletal malformations syndrome MIM#617602",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:56:06.898939+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11389",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ABL1 was changed from to Other",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:55:54.368088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11389",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to ",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:55:51.169681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11389",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:55:15.284023+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11388",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 28288113, 30855488, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome MIM#617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:54:54.959637+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11388",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 1 MIM#210250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:54:21.755571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11388",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C2: Rating: ; Mode of pathogenicity: None; Publications: 16026838, 8621452, 35272074, 32385807; Phenotypes: C2 deficiency MIM#217000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C2",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:21:35.429079+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1S were changed from to C1s deficiency MIM#613783",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:21:13.818333+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1S were set to ",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:20:51.906540+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1S was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:20:37.886509+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1S as ready",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:20:37.875846+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1s has been classified as Green List (High Evidence).",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:20:17.648225+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 19155518, 20191570, 18062908, 11390518, 9856483; Phenotypes: C1s deficiency MIM#613783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:19:05.250243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11388",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1S were changed from to Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174; C1s deficiency MIM#613783",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:18:56.244682+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11387",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1S were set to ",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:18:41.756631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11387",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1S as ready",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:18:41.744556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11387",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1s has been classified as Green List (High Evidence).",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:18:37.257382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11387",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1S was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:15:05.823626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11386",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 30071989, 27745832, 31921203, 19155518, 20191570, 18062908, 11390518, 9856483; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174, C1s deficiency MIM#613783; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:08:49.143790+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1S were set to 30071989; 27745832; 31921203; 28306229",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:08:38.604096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11386",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ABCC8 as ready",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:08:38.591787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11386",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Green List (High Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:08:29.492945+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C1S: Changed rating: GREEN; Changed publications: 30071989, 27745832, 31921203, 28306229; Changed phenotypes: Ehlers-Danlos syndrome, periodontal type, 2 MIM#617174; Set current diagnostic: yes",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:08:28.481387+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.66",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1S were changed from Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080) to Ehlers-Danlos syndrome, periodontal type, 2\tMIM#617174",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:07:58.866192+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: C1S as Green List (high evidence)",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:07:58.848387+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.65",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1s has been classified as Green List (High Evidence).",
"entity_name": "C1S",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:05:40.585536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11386",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:05:22.422600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11385",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ABCC8 were set to ",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:05:19.585388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11385",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T14:04:03.883689+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11384",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21054355, 32027066, 32376986; Phenotypes: Diabetes mellitus, noninsulin-dependent MIM#125853, Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857, Diabetes mellitus, transient neonatal 2 MIM#610374, Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450, Hypoglycemia of infancy, leucine-sensitive MIM#240800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:39:29.403686+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1R as ready",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:39:29.363373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1r has been classified as Green List (High Evidence).",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:39:26.704377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11384",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1R were changed from to Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080 Current\t Edit",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:12:07.137906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11383",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1R were set to ",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:12:02.402591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11383",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:11:50.949505+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITCH as ready",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:11:50.938195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itch has been classified as Green List (High Evidence).",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:11:39.356172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11382",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745832, 28306229; Phenotypes: Ehlers-Danlos syndrome, periodontal type, 1 MIM# 130080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "C1R",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:11:37.905395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11382",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:11:14.065026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to ",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:08:53.687507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11380",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C1QTNF5 were changed from to Retinal degeneration, late-onset, autosomal dominant MIM#605670",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:08:48.704756+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11379",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C1QTNF5 as ready",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:08:48.678330+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11380",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C1QTNF5 were set to ",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:08:48.645691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11379",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c1qtnf5 has been classified as Green List (High Evidence).",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:07:43.473436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11379",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:07:32.406910+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITCH were set to 20170897",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:07:15.073084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11378",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ITCH.",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:06:47.708232+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ITCH: Added comment: Unrelated individual reported in PMID 31091003 had normal intellect.; Changed publications: 20170897, 31091003",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:06:33.093211+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11378",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:06:28.739576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11378",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C1QTNF5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:06:14.511806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:06:11.703463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11377",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:02:02.105780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA7 as ready",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:02:02.082352+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11377",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga7 has been classified as Green List (High Evidence).",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:01:56.781467+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA7 as ready",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:01:56.772211+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga7 has been classified as Green List (High Evidence).",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:01:40.313849+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA7 were changed from to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T13:00:56.343096+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA7 were set to ",
"entity_name": "ITGA7",
"entity_type": "gene"
},
{
"created": "2022-03-15T12:59:34.497232+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ITGA7",
"entity_type": "gene"
}
]
}