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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1183",
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"results": [
{
"created": "2021-10-18T16:50:30.393018+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: 33767931, 33970744, 22693283, 22748208; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions MMI#611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:15.219798+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGLU as ready",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:15.206890+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naglu has been classified as Green List (High Evidence).",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:04.822749+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGLU were changed from Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; ?Charcot-Marie-Tooth disease, axonal, type 2V - 616491; Seizures to Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920; Seizures",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:49:43.048649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNH1 as Green List (high evidence)",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:49:43.038451+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh1 has been classified as Green List (High Evidence).",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:49:12.203558+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS; Mode of inheritance: None",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:49:06.363453+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1340",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Epilepsy appears to be a rare feature of this syndrome. \nSources: Literature; to: Epilepsy not reported. \r\nSources: Literature",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:48:43.642677+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAGLU was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:53.008846+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSGEP as ready",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:52.993062+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:52.510980+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAGLU as Green List (high evidence)",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:52.501178+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naglu has been classified as Green List (High Evidence).",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:49.841680+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.19",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OSTC was added\ngene: OSTC was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSTC were set to PMID: 32267060\nPhenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation\nReview for gene: OSTC was set to RED\nAdded comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.\r\nPatient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.\r\nGnomAD - 10 hets, 0 hom\r\nSources: Literature \nSources: Literature",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:01.440604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSGEP as Green List (high evidence)",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:47:01.430454+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: osgep has been classified as Green List (High Evidence).",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:46:41.221564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1337",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Epilepsy appears to be a rare feature of this disorder. \r\nSources: Literature; to: Epilepsy not reported\r\nSources: Literature",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:46:34.716621+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNN3 as ready",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:46:34.705918+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:46:24.787735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNN3 as Red List (low evidence)",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:46:24.777986+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:45:01.413100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA8 as ready",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:45:01.398244+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:54.826240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA8 as Amber List (moderate evidence)",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:54.817408+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:53.888758+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTC as ready",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:53.878525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:50.687864+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1336",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Epilepsy appears to be a rare feature of this syndrome. \nSources: Literature; to: Epilepsy appears to be a rare feature of this disorder. \r\nSources: Literature",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:31.791410+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: TBK1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 31000212, 25943890; Phenotypes: Frontotemporal dementia, amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:30.307509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNAB3 was added\ngene: KCNAB3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCNAB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNAB3 were set to PMID: 32990398\nPhenotypes for gene: KCNAB3 were set to febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus\nReview for gene: KCNAB3 was set to RED\nAdded comment: Missense variant identified in a single Han Chinese family with febrile seizures plus. Three affected carriers and one unaffected carrier. Patch clamp functional studies indicates that the variant accelerates the inactivation of the potassium channels. \nSources: Expert list",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:28.383587+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSTC as Red List (low evidence)",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:28.373519+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:08.753436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFA8 as ready",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:44:08.743612+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:43:10.832050+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFA8 as Amber List (moderate evidence)",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:43:10.822351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufa8 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFA8",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:42:56.819550+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD5 as ready",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:42:56.810142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:42:35.964083+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD5 were changed from X-Linked Intellectual Disability and Congenital Malformation to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:42:14.497578+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNC2 as ready",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:42:14.486773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:41:54.618470+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC2 as Amber List (moderate evidence)",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:41:54.606047+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:40:51.510593+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD5 as Amber List (moderate evidence)",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:40:51.498759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:40:25.305139+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH3 as ready",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:40:25.293948+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:40:13.787865+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTUD5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056; Mode of inheritance: None",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:38:46.867662+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOTCH3 were changed from ?Myofibromatosis, infantile 2 - 615293; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310; Lateral meningocele syndrome - 130720 to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 - 125310",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:37:53.700351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH3 as Red List (low evidence)",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:37:53.690342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch3 has been classified as Red List (Low Evidence).",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:37:53.143598+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNAB3 as ready",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:37:53.134018+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnab3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:36:47.424955+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNAB3 as Red List (low evidence)",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:36:47.415237+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnab3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:36:35.998679+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNA1 as ready",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:36:35.986961+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1328",
"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": "2021-10-18T16:35:39.950214+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNA1 as Green List (high evidence)",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:35:39.939117+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1328",
"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": "2021-10-18T16:35:24.494342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DAB1 as ready",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:35:24.483951+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dab1 has been classified as Red List (Low Evidence).",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:35:07.078108+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DAB1 as Red List (low evidence)",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:35:07.065126+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dab1 has been classified as Red List (Low Evidence).",
"entity_name": "DAB1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:34:01.720838+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KIF5A was added\ngene: KIF5A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF5A were set to 27414745; 33681666; 27463701\nPhenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal\tMIM#617235\nPenetrance for gene: KIF5A were set to Complete\nReview for gene: KIF5A was set to GREEN\ngene: KIF5A was marked as current diagnostic\nAdded comment: PMID: 27414745\r\n1x de novo with myoclonic seizures\r\n\r\nPMID: 33681666 \r\n1x de novo with epileptic spasm\r\n\r\nPMID: 27463701\r\n2 unrelated patients who presented shortly after birth with nearly continuous nonrhythmic large-amplitude myoclonic jerks associated with intermittent apnea\r\n2x de novo fs \nSources: Literature",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:02:48.327186+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1326",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KMT2D was added\ngene: KMT2D was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 33552639; 28404210; 27922244\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1\tMIM#147920\nPenetrance for gene: KMT2D were set to Complete\nReview for gene: KMT2D was set to GREEN\nAdded comment: PMID:33552639\r\n1x proband with focal epilepsy. Note: only KDM6A and KMT2D were analysed as Kabuki syndrome was suspected. Parental DNA unavailable for segregation\r\n\r\nPMID:28404210\r\n5 out of 14 reported to have epilepsy\r\n\r\nPMID:27922244 \r\n1x individual \nSources: Literature",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:44:24.316601+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC8 as ready",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:44:24.305448+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc8 has been classified as Red List (Low Evidence).",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:44:15.551825+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC8 was added\ngene: EXOSC8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EXOSC8 were set to 24989451; 29656927; 34210538\nPhenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, MIM#616081\nReview for gene: EXOSC8 was set to RED\nAdded comment: Typical clinical presentation is with severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants show delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination.\r\n\r\nSingle family reported with seizures as part of the phenotype. \nSources: Literature",
"entity_name": "EXOSC8",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:36:55.891499+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 5 unrelated families reported, seizures in at least 4 of the families. \nSources: Expert Review; to: 5 unrelated families reported, seizures in at least 4 of the families. \r\n\r\nNote mono-allelic variants cause retinopathy/SCA.\r\nSources: Expert Review",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:36:25.010035+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELOVL4 as ready",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:36:24.996156+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:36:20.563959+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELOVL4 as Green List (high evidence)",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:36:20.554489+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl4 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:35:31.987532+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ELOVL4 were set to 22100072; 24571530; 33652762\nPhenotypes for gene: ELOVL4 were set to Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)\nReview for gene: ELOVL4 was set to GREEN\nAdded comment: 5 unrelated families reported, seizures in at least 4 of the families. \nSources: Expert Review",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:23:02.345097+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFHC1 as ready",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:23:02.334743+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efhc1 has been classified as Red List (Low Evidence).",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:22:58.972748+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFHC1 were changed from Myoclonic epilepsy to {Epilepsy, juvenile absence, susceptibility to, 1}, 607631; {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:22:48.398612+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFHC1 were set to ",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:22:35.792198+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFHC1 as Red List (low evidence)",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:22:35.781745+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efhc1 has been classified as Red List (Low Evidence).",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:22:23.413305+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216, 33969125, 33181902; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:21:55.783385+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFHC1 were set to 31056551; 28370826; 29750216",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:21:21.178754+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EFHC1: Changed publications: 31056551, 28370826, 29750216, 33969125, 33181902",
"entity_name": "EFHC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:19:31.940347+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED27 was added\ngene: MED27 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MED27 were set to 33443317\nPhenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia\tMIM#619286\nPenetrance for gene: MED27 were set to unknown\nReview for gene: MED27 was set to GREEN\nAdded comment: 9 out of 15 reported to have epilepsy \nSources: Literature",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-10-18T15:16:15.531994+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MED13L was added\ngene: MED13L was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MED13L were set to 32646507; 29511999; 25712080\nPhenotypes for gene: MED13L were set to Impaired intellectual development and distinctive facial features with or without cardiac defects\tMIM#616789\nPenetrance for gene: MED13L were set to unknown\nReview for gene: MED13L was set to GREEN\ngene: MED13L was marked as current diagnostic\nAdded comment: PMID:32646507;\r\n8/18 individuals with missense variants reported to have epileptic seizures\r\n\r\nPMID:29511999;\r\n1x individual with fs variant\r\n\r\nPMID: 25712080;\r\n1x individual with nonsense variant \nSources: Literature",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:58:48.737863+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1322",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MAP1B was added\ngene: MAP1B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAP1B were set to 33772511\nPhenotypes for gene: MAP1B were set to febrile, fever-triggered and afebrile seizures\nPenetrance for gene: MAP1B were set to unknown\nReview for gene: MAP1B was set to RED\nAdded comment: 4 affected family members had various combinations of: febrile, fever-triggered and afebrile seizures; photo-sensitivity; comorbid mild developmental delays; obsessive-compulsive behaviors; and poor attention span. \r\nchildhood onset, heterozygous fs variant \nSources: Literature",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:27:43.317342+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJC6 were set to ",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:27:10.239149+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DNAJC6: Changed publications: 23211418",
"entity_name": "DNAJC6",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:23:32.772596+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:23:32.761219+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:23:26.324816+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:22:33.826348+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DENND5A were set to ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:22:05.467902+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:21:35.515644+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:19:17.829350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DENND5A as ready",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:19:17.819009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dennd5a has been classified as Green List (High Evidence).",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:19:09.700328+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DENND5A were changed from to Epileptic encephalopathy, early infantile, 49, MIM# 617281",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:18:50.120652+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DENND5A were set to ",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:18:31.570554+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DENND5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T14:18:12.197722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27431290, 27866705, 32705489; Phenotypes: Epileptic encephalopathy, early infantile, 49, MIM# 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DENND5A",
"entity_type": "gene"
}
]
}