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{
"count": 220239,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=887",
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"results": [
{
"created": "2022-04-09T17:44:55.648133+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A22 as ready",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:44:55.634833+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:44:32.656805+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:44:00.333483+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A22 were set to ",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:43:57.641069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A22 as ready",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:43:57.625954+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:43:49.009143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A22 were changed from to Developmental and epileptic encephalopathy 3, MIM# 609304",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:43:29.440493+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A22 were set to ",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:43:29.084451+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:42:50.909916+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:42:40.207061+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:41:53.457529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: None; Publications: 15592994, 19780765, 24596948, 33821742, 33342683, 31285529; Phenotypes: Developmental and epileptic encephalopathy 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:35:24.344312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM1 as ready",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:35:24.309763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm1 has been classified as Green List (High Evidence).",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:35:15.753512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM1 were changed from to Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:34:54.739110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPM1 were set to ",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:34:35.837108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:34:17.111627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRPM1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:32:49.565437+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC6 as ready",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:32:49.553738+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc6 has been classified as Green List (High Evidence).",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:32:47.347495+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:32:25.333226+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPC6 were set to 15879175; 15924139; 34387384; 33918778; 32509715",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:32:04.070790+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPC6 were set to ",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:31:49.882051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPC6 as ready",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:31:49.869401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpc6 has been classified as Green List (High Evidence).",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:31:26.464271+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:30:54.406677+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:30:52.262055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPC6 were changed from to Glomerulosclerosis, focal segmental, 2, MIM# 603965",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:30:35.530841+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPC6 were set to ",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:30:17.422521+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPC6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:29:47.471759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15879175, 15924139, 34387384, 33918778, 32509715; Phenotypes: Glomerulosclerosis, focal segmental, 2, MIM# 603965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPC6",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:26:19.055615+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC2 as ready",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:26:19.039173+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc2 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:26:14.143200+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC2 as ready",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:26:14.127755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc2 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:25:26.541263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2 were changed from to Spondyloepiphyseal dysplasia tarda, MIM# 313400",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:25:18.116836+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC2 were changed from Spondyloepiphyseal dysplasia tarda 313400; Spondyloepiphyseal dysplasia tarda\t313400 to Spondyloepiphyseal dysplasia tarda, MIM# 313400",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:24:45.188639+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2 were set to ",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:24:34.140181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC2 were set to ",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:24:07.512153+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:23:39.589887+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:23:03.129700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431248, 14755465, 33726005, 20301324, 32953644; Phenotypes: Spondyloepiphyseal dysplasia tarda, MIM# 313400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TRAPPC2",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:20:43.237689+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC12 as ready",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:20:43.227921+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc12 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:19:53.332353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAPPC11 as ready",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:19:53.318755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trappc11 has been classified as Green List (High Evidence).",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:19:43.026018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAPPC11 were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:19:17.958885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAPPC11 were set to ",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:18:57.442071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:18:38.611968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23830518, 26322222, 29855340, 30105108; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, MIM# 615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:17:35.308000+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAK1 as ready",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:17:35.297913+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trak1 has been classified as Green List (High Evidence).",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:17:12.531491+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:17:07.138320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRAK1 as ready",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:17:07.126426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trak1 has been classified as Green List (High Evidence).",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:16:47.443891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRAK1 were changed from to Developmental and epileptic encephalopathy 68, MIM# 618201",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:16:27.969188+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAK1 were set to ",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:16:09.705836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRAK1 were set to ",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:15:52.917059+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:15:43.019399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRAK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:15:09.360104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 28364549, 29846532, 28924745; Phenotypes: Developmental and epileptic encephalopathy 68, MIM# 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRAK1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:13:37.307383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPMT as ready",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:13:37.297938+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpmt has been classified as Red List (Low Evidence).",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:13:28.054601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPMT were changed from to {Thiopurines, poor metabolism of, 1} 610460",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:13:03.072409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TPMT as Red List (low evidence)",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:13:03.057039+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpmt has been classified as Red List (Low Evidence).",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:12:43.375206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPMT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Thiopurines, poor metabolism of, 1} 610460; Mode of inheritance: None",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:11:03.833143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRNT1 as ready",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:11:03.816631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Green List (High Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:10:54.673414+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:10:34.424710+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:10:01.891599+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:09:41.656301+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25193871, 23553769, 29170023, 27389523, 26494905; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:06:03.477665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:06:03.466277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:05:42.928165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:05:19.121898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMU were set to ",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:04:44.625591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:04:26.920484+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT5 as ready",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:04:26.908402+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt5 has been classified as Green List (High Evidence).",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:04:22.901955+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:03:46.444837+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT5 were set to ",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:03:00.348856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMU: Rating: GREEN; Mode of pathogenicity: None; Publications: 19732863; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:02:19.253349+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:01:11.985197+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:00:31.611690+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:00:17.828634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT5 as ready",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:00:17.801779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt5 has been classified as Green List (High Evidence).",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T17:00:08.547156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:59:41.854055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT5 were set to ",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:59:21.407690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:58:56.480610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:33:30.984711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18836446, 18976725, 34689181; Phenotypes: retinitis pigmentosa 25 MONDO:0011272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:26:09.245780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EXT1 were set to ",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:21:40.338453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12794",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:08:29.332312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ETV1 as ready",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:08:29.320705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etv1 has been classified as Red List (Low Evidence).",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:07:22.765100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 8981950, 20534475; Phenotypes: hereditary multiple osteochondromas MONDO:0005508, exostoses, multiple, type 1 MONDO:0007585; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T15:58:43.161172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ETV1 were set to ",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:36:46.982664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12792",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EXOC7 were changed from brain atrophy; seizures; developmental delay; microcephaly to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; brain atrophy; seizures; developmental delay; microcephaly",
"entity_name": "EXOC7",
"entity_type": "gene"
}
]
}