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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1091",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1089",
"results": [
{
"created": "2021-12-10T13:57:01.726131+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CXCR4 was added\ngene: CXCR4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CXCR4 was set to Unknown\nPhenotypes for gene: CXCR4 were set to WHIM syndrome, MIM# 193670",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.684728+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CTC1 was set to Unknown\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.643411+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSF3R was added\ngene: CSF3R was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CSF3R was set to Unknown\nPhenotypes for gene: CSF3R were set to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.599270+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC42 was added\ngene: CDC42 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CDC42 was set to Unknown\nPhenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome with thrombocytopenia",
"entity_name": "CDC42",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.558591+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDAN1 was added\ngene: CDAN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CDAN1 was set to Unknown\nPhenotypes for gene: CDAN1 were set to Dyserythropoietic anemia, congenital, type Ia, 224120",
"entity_name": "CDAN1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.515458+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C15orf41 was added\ngene: C15orf41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: C15orf41 was set to Unknown\nPhenotypes for gene: C15orf41 were set to Dyserythropoietic anemia, congenital, type Ib, MIM# 615631",
"entity_name": "C15orf41",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.461414+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ANKRD26 was added\ngene: ANKRD26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ANKRD26 was set to Unknown\nPhenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000",
"entity_name": "ANKRD26",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.421206+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALAS2 was added\ngene: ALAS2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ALAS2 was set to Unknown\nPhenotypes for gene: ALAS2 were set to Anemia, sideroblastic, 1, MIM# 300751",
"entity_name": "ALAS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.379867+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: AK2 was set to Unknown\nPhenotypes for gene: AK2 were set to MONDO:0009973; Reticular dysgenesis, MIM# 267500",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.340098+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADH5 was added\ngene: ADH5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ADH5 was set to Unknown\nPhenotypes for gene: ADH5 were set to AMED syndrome, digenic, MIM# 619151; short stature; Aplastic anaemia; myelodysplasia",
"entity_name": "ADH5",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.299960+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADA2 was added\ngene: ADA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ADA2 was set to Unknown\nPhenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.251732+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ACTN1 was added\ngene: ACTN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ACTN1 was set to Unknown\nPhenotypes for gene: ACTN1 were set to ACTN1 related thrombocytopenia",
"entity_name": "ACTN1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.168212+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCB7 was added\ngene: ABCB7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ABCB7 was set to Unknown\nPhenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, MIM# 301310",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.112566+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel IBMDx study",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-10T12:14:43.316552+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.1",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: DSG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29229434; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:18:47.293002+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:18:17.983255+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to 24700542; 22782511; 16537460",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:17:41.207650+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:17:08.153538+11:00",
"panel_name": "Brain Channelopathies",
"panel_id": 74,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY5: Added comment: Bi-allelic variants:\r\n\r\nNeurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.\r\n\r\nAutosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:14:22.661196+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:13:49.425184+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:13:07.194376+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CARS2 as ready",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:13:07.183291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Red List (Low Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:13:03.464917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CARS2 were changed from Epileptic encephalopathy with complex movement disorder and regression to Combined oxidative phosphorylation deficiency 27, MIM#616672",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:12:45.493196+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CARS2 were set to ",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:12:34.033863+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CARS2 as Red List (low evidence)",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:12:34.024201+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cars2 has been classified as Red List (Low Evidence).",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:12:18.633263+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated individuals described with this mitochondrial disorder, ID is part of the phenotype. \nSources: Expert list; to: Three unrelated individuals described with this mitochondrial disorder, primarily neurological involvement, post-natal onset. \r\nSources: Expert list",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T09:11:46.626454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CARS2: Changed rating: RED",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:56:20.873810+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:55:53.471246+11:00",
"panel_name": "Paroxysmal Dyskinesia",
"panel_id": 259,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.\r\n\r\nAutosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:54:11.439376+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM#606703 to Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:53:37.442314+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:53:10.158359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:52:43.488302+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY5 as Amber List (moderate evidence)",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:52:43.475654+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:52:09.922350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.\r\n\r\nNote also reports of a milder AR condition causing a movement disorder, where ID is not a feature.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.\r\n\r\nNote also reports of a milder AR condition causing a movement disorder, where ID is not a feature, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647.",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:51:26.385839+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene cause a movement disorder, intellectual disability is not typically a feature.\r\n\r\nNote one report of two siblings with bi-allelic variants and much more severe phenotype including ID (PMID 33704598); however parents were asymptomatic so evidence for causality is limited.; to: Mono-allelic variants in this gene also cause a movement disorder, intellectual disability is not typically a feature.\r\n\r\nNote also reports of a milder AR condition causing a movement disorder, where ID is not a feature.",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:50:42.788859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.; Changed rating: AMBER; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:46:16.548158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY5 were changed from Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707 to Dyskinesia, familial, with facial myokymia, MIM# 606703; MONDO:0011707; Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647; Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:45:53.863412+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY5 were set to 22782511; 24700542; 33051786; 32647899; 33704598",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:44:58.148356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T08:44:37.270652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ADCY5: Added comment: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders. Five individuals from 2 families reported.\r\n\r\nAutosomal recessive hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2) is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade. The severity is variable; some patients have orofacial dyskinesia, resulting in speech difficulties, or develop neuropsychiatric features, including anxiety and social withdrawal. Cardiomyopathy has rarely been described and may be a manifestation of the disorder. Eight individuals from 2 families reported.; Changed publications: 22782511, 24700542, 33051786, 32647899, 33704598, 34631954, 28971144, 30975617; Changed phenotypes: Dyskinesia, familial, with facial myokymia, MIM# 606703, MONDO:0011707, Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647, Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADCY5",
"entity_type": "gene"
},
{
"created": "2021-12-10T01:55:36.631559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10181",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: CFAP65: Rating: ; Mode of pathogenicity: None; Publications: 34231842; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:11:40.609147+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CANT1 as ready",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:11:40.597224+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Green List (High Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:11:30.492512+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CANT1 were changed from to Desbuquois dysplasia 1 MIM#251450; Epiphyseal dysplasia, multiple, 7, MIM# 617719",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:11:13.845192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CANT1 were set to 19853239; 21037275; 28742282",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:11:08.213759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CANT1 were set to ",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:10:47.586784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CANT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T20:10:02.967520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CANT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19853239, 21037275, 28742282; Phenotypes: Desbuquois dysplasia 1 MIM#251450, Epiphyseal dysplasia, multiple, 7, MIM# 617719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:35.742557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CANT1 as ready",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:35.732784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Green List (High Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:31.349269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CANT1 were changed from Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 to Desbuquois dysplasia 1, MIM# 251450",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:17.667215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CANT1 as Green List (high evidence)",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:17.656502+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cant1 has been classified as Green List (High Evidence).",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:11:06.152319+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Severe skeletal dysplasia, intellectual disability not a core feature of the phenotype (described in some); to: Severe skeletal dysplasia, prenatal onset of features.",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:10:53.943651+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CANT1: Changed rating: GREEN",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:10:05.327672+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMTA1 as ready",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:10:05.316968+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:59.801811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:48.081286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMTA1 were set to ",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:37.687214+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:23.231189+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMTA1 as Red List (low evidence)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:23.221580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:09:11.470706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.; to: Evidence predominantly from copy number variants. Recent report of four individuals with de novo variants in this gene (nonsense, frameshift, missense), phenotype predominantly ataxia with borderline DD/ID.\r\n\r\nCongenital anomalies are not a feature, clinical presentation is typically post-natal.",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T19:08:48.379309+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAMTA1: Changed rating: RED",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:01:13.500865+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2B as ready",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:01:13.486552+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:01:03.730783+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal dominant 54, MIM# 617799",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:00:49.462908+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2B were set to ",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:00:28.308836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported. One with significant microcephaly, otherwise congenital anomalies are not specifically reported.",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T14:00:01.923006+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAMK2B: Changed rating: AMBER",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:58:33.563657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2A as ready",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:58:33.553592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Green List (High Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:58:25.865228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:58:06.596809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2A were set to ",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:57:48.243549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:57:24.039100+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2A as ready",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:57:24.028562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Red List (Low Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:57:19.413247+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2A were changed from INTELLECTUAL DISABILITY to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T13:57:06.495183+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2A were set to ",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T12:19:07.824694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10174",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: RNF212: Rating: RED; Mode of pathogenicity: None; Publications: 18239089, 29277047; Phenotypes: Recombination rate QTL 1 MIM#612042; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:32:54.280060+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2A as ready",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:32:54.268297+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Green List (High Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:32:50.722184+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMK2A were changed from to Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:32:18.689564+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMK2A were set to ",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:31:35.611868+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMK2A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:29:26.591724+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:20:09.025468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMK2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:18:31.818975+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMK2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:18:21.837784+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMK2A as Red List (low evidence)",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:18:21.828527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Red List (Low Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:18:10.268922+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMK2A: Rating: RED; Mode of pathogenicity: None; Publications: 32600977, 29784083, 29560374; Phenotypes: Mental retardation, autosomal recessive 63 MIM#618095, Mental retardation, autosomal dominant 53 MIM#617798; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:14:11.866073+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGRP as ready",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:14:11.855466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrp has been classified as Red List (Low Evidence).",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:14:00.836967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGRP were changed from to {Leanness, inherited} 601665; {Obesity, late-onset} 601665",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:13:38.897139+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AGRP as Red List (low evidence)",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:13:38.884071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agrp has been classified as Red List (Low Evidence).",
"entity_name": "AGRP",
"entity_type": "gene"
},
{
"created": "2021-12-09T10:13:18.254809+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Leanness, inherited} 601665, {Obesity, late-onset} 601665; Mode of inheritance: None",
"entity_name": "AGRP",
"entity_type": "gene"
}
]
}