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{
"count": 220842,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=716",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=714",
"results": [
{
"created": "2022-10-11T20:37:04.681790+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alpha-thalassemia/mental retardation syndrome, MIM# 301040, Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:29:35.497168+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6AP2 as ready",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:29:35.488026+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6ap2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T20:29:25.985717+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:36:19.133448+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: IMPAD1 was added\ngene: IMPAD1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: IMPAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IMPAD1 were set to 34989141\nPhenotypes for gene: IMPAD1 were set to Chondrodysplasia with joint dislocations, GPAPP type-MIM#614078\nReview for gene: IMPAD1 was set to GREEN\nAdded comment: Disproportionately shortened length prenatally with shortened limbs described. \nSources: Expert list, Literature",
"entity_name": "IMPAD1",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:31:17.885153+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6AP2 were changed from to Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:30:23.078953+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP6AP2 were set to ",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:29:42.269933+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ATP6AP2 was changed from Other to Other",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:13:46.147857+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALT7 were set to 31278392\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1-MIM#130070\nReview for gene: B4GALT7 was set to GREEN\nAdded comment: Perinatal lethal skeletal dysplasia described \nSources: Expert list, Literature",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:03:15.682980+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Skeletal Dysplasia_Fetal. Sources: Literature\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GLCT were set to 23161355\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome-MIM#261540\nReview for gene: B3GLCT was set to GREEN\nAdded comment: IUGR with shortening of the long bones diagnosed antenatally reported. \nSources: Literature",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:50:07.139108+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GAT3 were set to 26754439; 31988067\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects -MIM#245600\nAdded comment: Antenatal presentation with shortened and bowed long bones described. \nSources: Expert list, Literature",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:45:22.158952+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ATP6AP2 was changed from to Other",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:44:44.290924+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ATP6AP2",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:42:14.926234+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:42:14.917321+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:41:34.571225+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:40:09.080938+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from Canavan disease MIM#271900; disorder of amino acid metabolism to Canavan disease MIM#271900; disorder of amino acid metabolism",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:39:16.641411+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASPA were changed from to Canavan disease MIM#271900; disorder of amino acid metabolism",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:38:06.946596+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASPA were set to ",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:37:21.089687+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ASPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:35:14.629839+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:35:14.621462+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:34:50.255673+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004 to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:33:56.147638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Mental retardation, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:32:15.408633+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:31:20.525202+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:30:19.796636+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARV1 as ready",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:30:19.778246+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arv1 has been classified as Green List (High Evidence).",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:30:13.525418+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, MIM#\t617020",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:29:34.999035+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARV1 were set to ",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:28:53.069847+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARV1",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:26:53.000545+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1B as ready",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:26:52.991064+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1b has been classified as Green List (High Evidence).",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:26:47.595110+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:25:55.539351+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:25:02.667049+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARFGEF2 as ready",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:25:02.653459+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef2 has been classified as Green List (High Evidence).",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:24:58.859531+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF2 were changed from to Periventricular heterotopia with microcephaly (MIM#608097)",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:07:46.133239+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ALG9 was added\ngene: ALG9 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG9 were set to 28932688; 25966638; 26453364\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210\nReview for gene: ALG9 was set to GREEN\nAdded comment: Lethal skeletal dysplasia in utero reported \nSources: Literature, Expert list",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2022-10-11T15:04:38.189277+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.140",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ALG3 was added\ngene: ALG3 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG3 were set to 26126960; 34441372\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id - MIM#26126960\nReview for gene: ALG3 was set to GREEN\nAdded comment: Antenatal presentation with IUGR and short long bones/limbs reported. \nSources: Expert list, Literature",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:44:24.062958+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARFGEF2 were set to ",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:43:33.541319+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARFGEF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:42:38.621090+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:42:38.612023+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:42:35.666735+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:41:46.169645+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMT were set to ",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:41:00.711741+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1715",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:40:05.061176+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:40:05.041491+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:40:01.588001+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1714",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AMPD2 were changed from to Pontocerebellar hypoplasia, type 9, MIM#615809",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:39:28.410061+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1713",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:38:41.366427+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:38:41.358025+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:38:37.397959+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1712",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPL were changed from to Hypophosphatasia, adult 146300 (AD, AR); Hypophosphatasia, childhood 241510 AR; Hypophosphatasia, infantile 241500 AR; Odontohypophosphatasia 146300 AD, AR",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:37:52.979680+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1711",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPL were set to ",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:37:05.967002+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ALPL was changed from to Other",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:36:33.084273+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:34:16.269801+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKT3 as ready",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:34:16.260801+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akt3 has been classified as Green List (High Evidence).",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:34:02.914618+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:33:21.421429+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKT3 were set to ",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:32:50.284378+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: AKT3 was changed from to Other",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:32:09.276665+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:28:58.964776+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADSL as ready",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:28:58.952222+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adsl has been classified as Green List (High Evidence).",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:28:51.393229+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADSL were changed from to Adenylosuccinase deficiency MIM#103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:27:31.739123+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADSL were set to ",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:26:55.634767+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADSL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:25:59.316928+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAR as ready",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:25:59.308603+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adar has been classified as Green List (High Evidence).",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:25:49.620044+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADAR were changed from to Aicardi-Goutieres syndrome 6, MIM# 615010; Dyschromatosis symmetrica hereditaria, MIM# 127400",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:25:03.827700+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADAR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:14:00.414727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD5 as ready",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:14:00.405900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:13:46.216335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD5 as Green List (high evidence)",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:13:46.208209+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:13:21.375852+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD5 was added\ngene: FRMD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRMD5 were set to 36206744\nPhenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related\nReview for gene: FRMD5 was set to GREEN\nAdded comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model. \nSources: Literature",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:11:15.767553+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD5 as ready",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:11:15.758467+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:11:12.087793+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD5 as Green List (high evidence)",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:11:12.079365+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:10:58.251365+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD5 was added\ngene: FRMD5 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRMD5 were set to 36206744\nPhenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related\nReview for gene: FRMD5 was set to GREEN\nAdded comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model. \nSources: Literature",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:10:40.883875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD5 as ready",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:10:40.870537+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:10:17.929041+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD5 as Green List (high evidence)",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:10:17.919335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:09:15.839886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD5 was added\ngene: FRMD5 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FRMD5 were set to 36206744\nPhenotypes for gene: FRMD5 were set to Neurodevelopmental disorder MONDO:0700092, FRMD5-related\nReview for gene: FRMD5 was set to GREEN\nAdded comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model. \nSources: Literature",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:09:06.299355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRMD5 as ready",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:09:06.289627+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:08:54.452578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRMD5 were changed from to Neurodevelopmental disorder MONDO:0700092, FRMD5-related",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:07:51.827960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRMD5 were set to ",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:07:20.453370+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRMD5: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, FRMD5-related",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:06:18.725322+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FRMD5: Changed publications: 36206744",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:06:04.521290+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FRMD5 as Green List (high evidence)",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:06:04.511909+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: frmd5 has been classified as Green List (High Evidence).",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T14:05:05.369769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FRMD5 was added\ngene: FRMD5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nReview for gene: FRMD5 was set to GREEN\nAdded comment: Eight individuals reported with missense variants in this gene, de novo in 6 where parents were available. Clinical presentation was with ID, seizures, ataxia. Fly model. \nSources: Literature",
"entity_name": "FRMD5",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:09:44.041797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.400",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: GIGYF1 were set to 33057194; 35917186",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:09:39.911648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.400",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: GIGYF1 were set to 33057194",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:05:56.088978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.399",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2022-10-11T11:05:10.488801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4990",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: GIGYF1 were changed from Developmental disorder to Autism, Intellectual disability, GIGYF1-related (MONDO#0001071)",
"entity_name": "GIGYF1",
"entity_type": "gene"
}
]
}