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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=913",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=911",
"results": [
{
"created": "2022-03-27T16:08:40.127628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP29 as ready",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:08:40.115436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap29 has been classified as Green List (High Evidence).",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:08:32.267630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:08:13.479623+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP29 were set to ",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:07:51.124708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:07:32.753551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:05:02.187827+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAP25 as ready",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:05:02.177249+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snap25 has been classified as Green List (High Evidence).",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:04:54.402126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:04:34.583807+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAP25 were set to ",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:03:58.042971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:03:36.179052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:00:25.137559+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNAI2 as ready",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:00:25.115351+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T16:00:17.519566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:59:57.848564+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SNAI2 were set to ",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:59:38.007929+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:59:18.560183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNAI2 as Amber List (moderate evidence)",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:59:18.549069+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:59:00.861878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:53.207628+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMS as ready",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:53.198065+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Green List (High Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:50.228472+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMS were changed from MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:42.041934+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMS were set to ",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:29.856503+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:10.036519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMS as ready",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:53:10.026651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Green List (High Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:51:52.550247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMS as ready",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:51:52.540761+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sms has been classified as Green List (High Evidence).",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:51:44.853549+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:51:11.238359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMS were set to ",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:50:39.046311+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:50:05.175336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:49:55.864561+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:49:31.926009+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMS were set to ",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:49:11.856061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T15:48:53.836883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:04:44.426735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101 , MIM#619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:04:09.004213+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:03:16.780479+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIN1: Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:03:01.556796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:01:40.990124+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN1 were set to 29365063; 27164704",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:01:03.036628+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T11:00:24.207674+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIN1: Added comment: Note also families reported with bi-allelic LoF variants and DEE phenotype, PMIDs 34611970 and 27164704; Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T10:58:39.784589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM#\t619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-27T10:58:13.730447+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820",
"entity_name": "GRIN1",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:41:20.834416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS10 as ready",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:41:20.823270+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps10 has been classified as Green List (High Evidence).",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:41:12.470719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12005",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:40:51.715594+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12004",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS10 were set to ",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:40:29.435419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12003",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:40:08.788797+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:38:56.671214+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO3 as ready",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:38:56.661522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:38:44.731075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12002",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:38:23.757724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO3 were set to ",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:38:03.747762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:37:15.274281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO2 as ready",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:37:15.261646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo2 has been classified as Green List (High Evidence).",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:37:07.100140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:36:45.977753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROBO2 were set to ",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:36:25.392036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:36:05.018834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:33:34.233693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF216 as ready",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:33:34.223050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf216 has been classified as Green List (High Evidence).",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:33:25.847366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:33:06.039042+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF216 were set to ",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2022-03-26T17:32:38.231095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RNF216",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:17:43.708606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:17:43.687613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:17:41.679107+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:17:33.967162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:17:18.038248+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP2B2 were set to 30535804",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:16:51.612032+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP2B2 were set to ",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:16:34.572510+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T16:16:07.006336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:59:10.706598+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2B as ready",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:59:10.696272+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Green List (High Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:59:05.779599+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:58:35.546304+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2B were set to ",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:58:08.116595+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:57:32.111912+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:57:20.714463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TFAP2B as ready",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:57:20.704537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Green List (High Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:56:44.446850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:56:23.845806+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA.\r\n\r\nFour individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant). ",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:56:04.875182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TFAP2B: Changed publications: 31292255, 11505339, 15684060, 18752453, 21643846; Changed phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035, Syndromic craniosynostosis",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:55:18.843826+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2B were changed from Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035 to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035; Syndromic craniosynostosis",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:54:29.103020+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM#\t617035",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:53:54.814631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TFAP2B were set to ",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:53:31.928605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:53:13.671851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:50:15.244043+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERT as ready",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:50:15.233260+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tert has been classified as Green List (High Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:50:07.281332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:49:47.691344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TERT were set to ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:49:28.756656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:49:11.408883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:47:52.880462+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TERC as ready",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2022-03-26T13:47:52.869045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: terc has been classified as Green List (High Evidence).",
"entity_name": "TERC",
"entity_type": "gene"
}
]
}