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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1457",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1455",
"results": [
{
"created": "2020-12-30T08:47:11.401888+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:46:34.824616+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ3 as ready",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:46:34.813998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq3 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:46:18.680812+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:45:51.052188+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:45:16.570587+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:44:43.208896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:43:37.137637+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ3 as ready",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:43:37.125465+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq3 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:43:34.273544+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:43:04.290817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:42:35.242363+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:41:55.700056+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327, 25524373, 24851285; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:40:37.904732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ3 as ready",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:40:37.892987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq3 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:40:30.323443+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:39:57.328312+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:39:27.358574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:39:14.638311+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ3 were changed from to Seizures, benign neonatal, 2, MIM# 121201",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:39:01.287838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:36:32.878479+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNQ3 were set to ",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:35:55.405056+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:35:22.899737+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33337327; Phenotypes: Seizures, benign neonatal, 2, MIM# 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ3",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:33:11.616247+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ2 as ready",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:33:11.608026+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq2 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:33:08.611265+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ2 were changed from to Myokymia, MIM# 121200; Seizures, benign neonatal, 1, MIM# 121200; Developmental and epileptic encephalopathy 7, MIM# 613720",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:32:36.787010+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:32:02.262781+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myokymia, MIM# 121200, Seizures, benign neonatal, 1, MIM# 121200, Developmental and epileptic encephalopathy 7, MIM# 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ2",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:28:26.951871+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:27:48.636450+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:27:26.299826+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:26:50.409283+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:26:27.383634+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:25:44.271874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKACB as ready",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:25:44.260389+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkacb has been classified as Green List (High Evidence).",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:25:36.034209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:25:13.664660+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: None",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:24:53.041793+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKACB: Changed phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:24:36.355581+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACB were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 2, MIM# 619143; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:23:48.171631+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 2, MIM# 619143; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKACB",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:17:08.098703+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRKACA as ready",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:17:08.088937+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prkaca has been classified as Green List (High Evidence).",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:06:34.252424+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:05:58.053861+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: None",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:00:45.753711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T08:00:21.621297+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T07:59:43.864651+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T07:59:10.676415+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRKACA: Changed phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142, Postaxial hand polydactyly, Postaxial foot polydactyly, Common atrium, Atrioventricular canal defect, Narrow chest, Abnormality of the teeth, Intellectual disability",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T07:58:52.674982+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRKACA were changed from Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability to Cardioacrofacial dysplasia 1, MIM# 619142; Postaxial hand polydactyly; Postaxial foot polydactyly; Common atrium; Atrioventricular canal defect; Narrow chest; Abnormality of the teeth; Intellectual disability",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-30T07:58:17.210712+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardioacrofacial dysplasia 1, MIM# 619142; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKACA",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:09:02.556176+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1S as Red List (low evidence)",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:09:02.537283+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Red List (Low Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:08:26.473256+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association but a skeletal muscle channelopathy.",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:08:12.010284+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1S: Changed rating: RED",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:06:19.653847+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:06:19.645320+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.52",
"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": "2020-12-29T20:06:15.345389+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1S were changed from to Hypokalemic periodic paralysis, type 1, MIM# 170400",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:05:37.221463+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1S were set to ",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:05:03.853118+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-12-29T20:03:13.997095+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 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": "2020-12-29T19:22:48.316919+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A3 as ready",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:22:48.309365+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:22:35.017285+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A3 were changed from to Episodic ataxia, type 6 MIM#612656",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:22:03.547251+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A3 were set to ",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:21:31.463182+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:03:41.654089+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA1 as ready",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:03:41.646472+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcna1 has been classified as Green List (High Evidence).",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:03:36.092939+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA1 were changed from Episodic ataxia/myokymia syndrome, MIM# 160120 to Episodic ataxia/myokymia syndrome, MIM# 160120",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:03:05.974266+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNA1 were changed from to Episodic ataxia/myokymia syndrome, MIM# 160120",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:02:43.425613+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA1 were set to 11026449",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:02:21.070917+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNA1 were set to ",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:01:55.417985+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.43",
"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": "2020-12-29T19:01:30.190633+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:00:37.057818+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:00:37.049736+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:00:34.907783+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from to Episodic ataxia, type 2 MIM#108500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T19:00:07.311031+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:59:37.322279+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: CACNA1A.",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:57:31.830738+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP1A3 as ready",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:57:31.822636+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp1a3 has been classified as Green List (High Evidence).",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:57:29.028402+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM# 614820; CAPOS syndrome, MIM# 601338; Dystonia-12, MIM# 128235",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:57:06.895195+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to 15260953; 22842232; 24468074",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:56:44.957924+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP1A3 were set to ",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:56:19.613497+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:55:46.634337+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15260953, 22842232, 24468074; Phenotypes: Alternating hemiplegia of childhood 2, MIM# 614820, CAPOS syndrome, MIM# 601338, Dystonia-12, MIM# 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:52:19.566337+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TLK2 as ready",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:52:19.555173+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlk2 has been classified as Green List (High Evidence).",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:52:15.181795+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLK2 were changed from to Mental retardation, autosomal dominant 57, MIM# 618050",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:51:38.995534+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLK2 were set to ",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:51:13.324268+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:50:36.752344+11:00",
"panel_name": "Blepharophimosis",
"panel_id": 55,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29861108; Phenotypes: Mental retardation, autosomal dominant 57, MIM# 618050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TLK2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:48:37.360130+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:48:37.352152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Green List (High Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:48:28.478863+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:47:38.722048+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARF2 were set to ",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:47:09.952368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCARF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:46:52.675182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCARF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20887961, 23808541, 24478002, 27375131, 24478002; Phenotypes: Van den Ende-Gupta syndrome, MIM# 600920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:46:11.953554+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARF2 as ready",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:46:11.945608+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarf2 has been classified as Green List (High Evidence).",
"entity_name": "SCARF2",
"entity_type": "gene"
},
{
"created": "2020-12-29T18:46:09.051374+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARF2 were changed from to Van den Ende-Gupta syndrome, MIM# 600920",
"entity_name": "SCARF2",
"entity_type": "gene"
}
]
}