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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=512",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=510",
"results": [
{
"created": "2023-12-06T13:35:42.320657+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Amber List (Moderate Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2023-12-06T13:35:36.608669+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MADD as Amber List (moderate evidence)",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2023-12-06T13:35:36.583193+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Amber List (Moderate Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:50:47.625674+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WBP4 were set to ",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:50:07.359968+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 37963460; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, WBP4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:49:25.723577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WBP4 were set to ",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:48:55.854501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 37963460; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, WBP4-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WBP4",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:13:49.148673+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:13:08.725572+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:12:50.105495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPL39 as ready",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:12:50.095107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrpl39 has been classified as Green List (High Evidence).",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:12:41.594697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T12:12:11.232643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPL39",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:31:22.311652+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KRAS as ready",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:31:22.301619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kras has been classified as Green List (High Evidence).",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:29:25.812053+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from to Oculoectodermal syndrome, somatic MIM#600268; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:28:56.016382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:28:29.869574+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRAS was changed from to Other",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:28:03.952619+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1995",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T11:27:17.941854+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1994",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: KRAS: Added comment: PMID: 37126322 - somatic variants Drug-Resistant mesial temporal lobe epilepsy, variants are all located in mutational hot spots for cancer and neurodevelopmental disorders. Probands x2 (p.G12D) had mesial temporal sclerosis and/or focal cortical dysplasia\r\n\r\nPMID: 37722300 - 14-month-old boy with Schimmelpenning syndrome (KRAS p.G12D, postzygotic somatic mutation) with refractory epilepsy; Changed publications: PMID: 37126322, 37722300; Changed phenotypes: Oculoectodermal syndrome, somatic MIM#600268, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic MIM#163200",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2023-12-06T07:56:51.580534+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1994",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from Alpha-methylacyl-CoA racemase deficiency (MIM#614307) to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY MIM#614307",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-06T07:56:15.704163+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1993",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: AMACR were changed from ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307 to Alpha-methylacyl-CoA racemase deficiency (MIM#614307)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-06T07:55:39.795738+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1992",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:11:14.418329+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:10:53.738437+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:10:53.682065+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:10:44.938082+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483 to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:10:17.149117+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A2 were changed from to Cerebral Palsy MONDO#0006497, COL4A2-related; Brain small vessel disease 2 MIM# 614483",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:09:40.971634+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A2 were set to ",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:08:52.601314+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:08:13.792714+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral Palsy MONDO#0006497, COL4A2-related, Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:07:11.766612+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:07:11.754557+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:05:24.823012+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773; Brain small vessel disease with or without ocular anomalies MIM#175780; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:04:53.158122+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A1 were set to ",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:04:17.539968+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:03:39.106485+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Seizures are secondary.; to: Seizures are secondary but described. Included for completeness.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T22:02:57.492208+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps MIM#611773, Brain small vessel disease with or without ocular anomalies MIM#175780, Microangiopathy and leukoencephalopathy, pontine, autosomal dominant MIM#618564; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:36:50.325033+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG2 as ready",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:36:50.315721+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:36:46.470147+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG2 were changed from CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906 to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:35:13.085749+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG2 as Red List (low evidence)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:35:13.073883+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg2 has been classified as Red List (Low Evidence).",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:34:25.859548+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228, Congenital disorder of glycosylation, type Ii, MIM# 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:32:50.742176+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:32:50.712671+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:32:44.052581+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:32:44.041318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:30:59.736341+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:30:59.724316+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Green List (High Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:30:55.760275+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1A were changed from Coffin-Siris Syndrome 2 to Coffin-Siris syndrome 2 #614607",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:29:21.546881+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID1A as Green List (high evidence)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:29:21.533373+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Green List (High Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:28:43.758147+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARID1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coffin-Siris syndrome 2 #614607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:26:29.336702+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3D1 as ready",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:26:29.325735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:26:11.546940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3D1 were changed from HERMANSKY-PUDLAK SYNDROME 10 to Hermansky-Pudlak syndrome 10, MIM# 617050",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:25:30.751260+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP3D1 as Amber List (moderate evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:25:30.738394+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:24:39.918745+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:22:54.782438+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AP3D1 as ready",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:22:54.744142+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:22:52.177926+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AP3D1 were changed from Hermansky-Pudlak Syndrome 10 to Hermansky-Pudlak syndrome 10, MIM# 617050",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:22:18.518888+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AP3D1 as Amber List (moderate evidence)",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:22:18.487638+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ap3d1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:21:48.361913+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AP3D1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 10, MIM# 617050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:18:48.918346+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSA as ready",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:18:48.898341+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:18:38.755635+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARSA as Green List (high evidence)",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:18:38.746228+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsa has been classified as Green List (High Evidence).",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:18:01.631073+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy - # 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:16:46.476382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPM as ready",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:16:46.463794+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:16:40.332491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASPM as Green List (high evidence)",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:16:40.322258+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspm has been classified as Green List (High Evidence).",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T19:16:03.279952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASPM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary autosomal recessive Microcephaly 5 - OMIM #608716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T15:33:00.850071+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ASPM was added\ngene: ASPM was added to Genetic Epilepsy. Sources: Expert Review,Literature,ClinGen\nMode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPM were set to (PMID:32239881; 19770472; 18452193; 16141009)\nPhenotypes for gene: ASPM were set to Primary autosomal recessive Microcephaly 5 - OMIM #608716\nAdded comment: Known microcephaly gene (AR). Seizures reported in around 15% of cases (GENEREVIEWS). Seizures reported on OMIM. Clingen curated seizures is a feature of this gene. Primary feature microcephaly. Various seizure types focal or tonic and tonic-clonic generalized seizures have been reported. 3 of 18 patients in a neurology cohort with later onset seizures PMID 19770472, another case of a female age 5 with 2 seizures, not needing treatment PMID 18452193, and a third publication with 2 of 3 affected family members with seizure phenotype tonic clonic/ clonic PMID 16141009. \nSources: Expert Review, Literature, ClinGen",
"entity_name": "ASPM",
"entity_type": "gene"
},
{
"created": "2023-12-05T14:47:56.740804+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Genetic Epilepsy. Sources: Expert Review,Literature\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSA were set to (PMID: 33195324; 10987380; 37359369; 20301309; 36324388; 19021637)\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy - # 250100; Arylsulfatase A deficiency\nAdded comment: Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Typical features: lysosomal storage disorder, CNS abnormalities, dev delay and regression. Neuropsychiatric features. Seizures reported in all subtypes (GENEREVIEWS, OMIM, Review article 33195324). Later onset cases (2 in 10987380), 2 early onset cases (37359369) in consanguineous families. Also reported in a male with compunder heterozygous variants (36324388). 3 out of 6 patients in a Polish pediatric cohort with different mutations had seizures (clonic, tonic clonic) onset from as early as 7 months. \nSources: Expert Review, Literature",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2023-12-05T14:17:37.272217+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.9",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Ocular and Oculocutaneous Albinism. Sources: Expert Review,Literature,NHS GMS\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3D1 were set to (PMID: 26744459; 30472485; 19032734; 36445457)\nPhenotypes for gene: AP3D1 were set to Hermansky-Pudlak Syndrome 10\nPenetrance for gene: AP3D1 were set to unknown\nReview for gene: AP3D1 was set to AMBER\nAdded comment: First family Turkish consanguineous with with severe neurologic impairment, oculocutaneous albinism, and immunodeficiency. PTC variant. Progressive epilepsy with intractable seizures (myoclonic jerks/ tonic clonic) and passed away 3.5 years (PMID: 26744459). Features of this case included infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. Another consanguineous family with Frameshift variants with 1 male and 2 females with seizures seizures (male 10 years, females shortly after birth), tonic clonic (PMID: 30472485) and other features of Hermansky-Pudlak Syndrome 10 (including platelet defects, oculocutaneous albinism, and immunodeficiency). Mouse model (19032734) shows knock out of AP3D1 shows albinism characteristics, difference in input resistance of the neurons, a difference in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. 2023 paper (PMID 36445457) shows a family with missense homozygous variants - they present with hearing loss, 2 siblings with neurodevelopmental delay and 2 with abnormality of the brain structurally, no albinism in this family. 2 affected families with PTCs but albinism phenotype not clear in all cases. Imp: moderate evidence ?2 affected plus affected albinism mice knock out model = suspicious. Amber on Panel App UK. \nSources: Expert Review, Literature, NHS GMS",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T12:55:30.287841+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) \r\nSources: Literature, Expert Review; to: Coffin Siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) \r\nSources: Literature, Expert Review",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T12:55:21.050558+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "changed review comment from: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) \nSources: Literature, Expert Review; to: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) \r\nSources: Literature, Expert Review",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T12:53:30.058119+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Genetic Epilepsy. Sources: Literature,Expert Review\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1A were set to (PMID:34942405; 25168959; 33303725; 35571021; 23906836; 23929686)\nPhenotypes for gene: ARID1A were set to Coffin-Siris Syndrome 2\nReview for gene: ARID1A was set to GREEN\nAdded comment: Coffin siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures (34942405). Seizure reported on OMIM. Multiple reports of variable seizures. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686) \nSources: Literature, Expert Review",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-12-05T12:15:51.955222+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: AP3D1 was added\ngene: AP3D1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AP3D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3D1 were set to (PMID: 26744459; 30472485; 19032734; 36445457\nPhenotypes for gene: AP3D1 were set to HERMANSKY-PUDLAK SYNDROME 10\nReview for gene: AP3D1 was set to AMBER\nAdded comment: First family Turkish consanguineous with with severe neurologic impairment, albinism, and immunodeficiency. PTC variant. Progressive epilepsy with intractable seizures (myoclonic jerks/ tonic clonic) and passed away 3.5 years (PMID: 26744459). Features of this case included infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. Another consanguineous family with Frameshift variants with 1 male and 2 females with seizures seizures (male 10 years, females shortly after birth), tonic clonic (PMID: 30472485) and other features of Hermansky-Pudlak Syndrome 10 (including platelet defects, oculocutaneous albinism, and immunodeficiency). Mouse model (19032734) shows knock out of AP3D1 shows albinism characteristics, difference in input resistance of the neurons, a difference in the synaptic short-term plasticity of glutamatergic autapses showing a larger synaptic depression than controls. 2023 paper (PMID 36445457) shows a family with missense homozygous variants - they present with hearing loss, 2 siblings with neurodevelopmental delay and 2 with abnormality of the brain structurally, no reported seizures in this family. 2 affected families with PTCs but seizure phenotype not clear in all cases. Imp: moderate evidence \nSources: Literature",
"entity_name": "AP3D1",
"entity_type": "gene"
},
{
"created": "2023-12-05T11:33:45.432347+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Genetic Epilepsy. Sources: Literature,Expert Review\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to (PMID:35428665; 21576695; 11060344; 21686617\nPhenotypes for gene: AMACR were set to ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY - 614307\nPenetrance for gene: AMACR were set to unknown\nReview for gene: AMACR was set to GREEN\nAdded comment: Autosomal recessive affecting AMACR enzyme which is active in the mitochondrial & peroxisome. AMACR deficiency and Congenital Bile Acid Synthesis Defect 4 are distinctive phenotypes. Epilepsy a feature of AMACR deficiency on OMIM. AMACR deficiency reported in adults with later onset tonic clonic seizures in a 58 year old male, also had cerebellar features. Second case of female in her 70s with lacosamide responsive seizures and other neurological manifestations. Case series (Thompson et al 2009) - 44 year old male seizures onset at age 18, 52 year old female seizure onset 50s, and 57 y/o female tonic clonic seizures onset at age 13. Variable condition. \nSources: Literature, Expert Review",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-05T10:30:01.197030+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "John Coleman",
"item_type": "entity",
"text": "gene: ALG2 was added\ngene: ALG2 was added to Genetic Epilepsy. Sources: Literature,NHS GMS\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG2 were set to (PMID:12684507; 28733338; 28007376)\nPhenotypes for gene: ALG2 were set to CONGENITAL MYASTHENIC SYNDROME - MIM # 616228; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii - MIM ## 607906\nReview for gene: ALG2 was set to RED\nAdded comment: Red list on NHS panel app. Literature search shows one case with reported seizures although limited phenotype given at 1 year, patient was normal at birth apart from coloboma (Thiel 2003). no other cases on pubmed or literature wider search. Phenotype appears to present with varying onset of myasthenic syndrome with myopathic features. ALG2 not specifically linked with epilepsy phenotype in the literature the way other CDGS are. Developmental delay also a neurodevelopmental feature. \nSources: Literature, NHS GMS",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:17:27.146040+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT10A as ready",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:17:27.135785+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:17:24.075857+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10A were changed from microcephaly; diabetes; intellectual disability; epilepsy to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:16:44.015091+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRMT10A as Green List (high evidence)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:16:43.998286+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10a has been classified as Green List (High Evidence).",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:15:36.320759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag STR tag was added to gene: SAMD12.",
"entity_name": "SAMD12",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:14:40.688817+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:14:40.679071+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:14:33.003901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Seizures; Epilepsy to Baraitser-Winter syndrome 1 243310 Thrombocytopenia 8, with dysmorphic features and developmental delay, MIM# 620475",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:13:53.599459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACTB as Green List (high evidence)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:13:53.589594+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1972",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:12:32.796855+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACY1 as ready",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:12:32.785112+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acy1 has been classified as Green List (High Evidence).",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:12:28.900825+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1971",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACY1 were changed from Seizures; Epilepsy; Febrile Seizures to Aminoacylase 1 deficiency, MIM# 609924",
"entity_name": "ACY1",
"entity_type": "gene"
},
{
"created": "2023-12-04T20:11:11.643823+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1970",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ACY1 as Green List (high evidence)",
"entity_name": "ACY1",
"entity_type": "gene"
}
]
}