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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1135",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1133",
"results": [
{
"created": "2021-11-10T08:52:43.792936+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brat1 has been classified as Green List (High Evidence).",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:52:40.146349+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAT1 were changed from LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:52:26.320268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAT1 were set to 23035047",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:52:01.996398+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:51:58.435418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRAT1: Added comment: RMFSL: Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life. More than 5 unrelated families reported.\r\n\r\nNeurodevelopmental disorder with cerebellar atrophy, with or without seizures: at least 4 families reported with this milder disorder, which typically has onset in infancy. The two disorders likely represent a continuum.\r\n\r\nBoth disorders associated with this gene have microcephaly as a feature.; Changed publications: 26483087, 26494257, 27282546, 22279524, 23035047, 25319849, 25500575",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:48:53.151931+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BRAT1: Changed phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056, Rigidity and multifocal seizure syndrome, lethal neonatal, MIM# 614498",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:16:47.512550+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-11-10T08:12:49.496050+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM#\t619595",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:12:11.492110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRCAP: Changed phenotypes: Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:11:41.315692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome MIM#136140; Neurodevelopmental disorder, non-Floating Harbor to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM#\t619595",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-11-10T08:11:15.298336+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SRCAP: Changed phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:11:12.696417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:10:53.667357+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:10:22.003786+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP45 were changed from Situs inversus; asthenospermia to Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:09:46.865963+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP45: Changed phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608",
"entity_name": "CFAP45",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:07:21.722207+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:07:02.365922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:06:23.188031+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP52 were changed from Heterotaxy to Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-11-09T19:05:55.805930+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP52: Changed phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607",
"entity_name": "CFAP52",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:40:20.655219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Hydrops and congenital heart disease are key features.",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:39:57.487618+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRAF as ready",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:39:57.474065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: braf has been classified as Green List (High Evidence).",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:39:52.896934+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRAF were changed from NOONAN SYNDROME TYPE 7; CARDIOFACIOCUTANEOUS SYNDROME; LEOPARD SYNDROME TYPE 3 to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:39:39.716709+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRAF were set to ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:39:26.617956+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:38:54.980154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:38:54.968178+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:38:45.200188+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from to Acromesomelic dysplasia, Demirhan type, MIM# 609441; Brachydactyly, type A1, D, MIM# 616849; Brachydactyly, type A2, MIM# 112600",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:38:26.422739+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to ",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:38:05.288097+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPR1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:37:44.226047+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076, 25758993, 14523231, 14523231; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441, Brachydactyly, type A1, D, MIM# 616849, Brachydactyly, type A2, MIM# 112600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:34:14.210166+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1B as ready",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:34:14.195242+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1b has been classified as Green List (High Evidence).",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:34:10.815110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1B were changed from Acromesomelic dysplasia, Demirhan type, OMIM:609441 to Acromesomelic dysplasia, Demirhan type, MIM# 609441",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:33:59.773067+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR1B were set to ",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:33:45.613375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15805157, 24129431, 26105076; Phenotypes: Acromesomelic dysplasia, Demirhan type, MIM# 609441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:31:06.719811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPER as ready",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:31:06.709276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmper has been classified as Green List (High Evidence).",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:30:56.663228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:30:20.626644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPER were set to ",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:29:59.922382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:29:36.099584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:29:29.629728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BMPER: Perinatal lethal skeletal dysplasia.\r\n\r\nThe primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.\r\n\r\nAt least 5 unrelated families reported.",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:29:16.908718+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMPER: Changed publications: 20869035, 30006055",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:51.898142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPER as ready",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:51.887068+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmper has been classified as Green List (High Evidence).",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:48.190981+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPER were changed from DIAPHANOSPONDYLODYSOSTOSIS to Diaphanospondylodysostosis, MIM#608022",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:36.342328+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPER were set to ",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:22.768025+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Perinatal lethal skeletal dysplasia.\r\n\r\nThe primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases; to: Perinatal lethal skeletal dysplasia.\r\n\r\nThe primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases.\r\n\r\nAt least 5 unrelated families reported.",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:28:02.747494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:27:57.085430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMPER: Changed publications: 20869035, 30006055",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:27:22.210171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Perinatal lethal skeletal dysplasia.; to: Perinatal lethal skeletal dysplasia.\r\n\r\nThe primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:26:40.670744+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Perinatal lethal skeletal dysplasia, not appropriate for this panel.; to: Perinatal lethal skeletal dysplasia.",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:26:28.344190+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMPER: Changed rating: GREEN",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:25:57.088890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP4 as ready",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:25:57.076935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp4 has been classified as Green List (High Evidence).",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:25:47.792860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:25:29.001072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:25:09.786304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:24:51.054095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31053785, 19249007, 31909686, 21340693; Phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:24:08.213379+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP4 as ready",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:24:08.202649+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp4 has been classified as Green List (High Evidence).",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:24:04.291939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from OROFACIAL CLEFT 11; MICROPHTHALMIA, SYNDROMIC 6 to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:23:52.556261+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to 21340693; 31053785",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:23:33.372515+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.\r\n\r\nDeletions reported.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. \r\n\r\nNote some of the variants reported with isolated CL/P are susceptibility alleles.\r\n\r\nDeletions reported.",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:23:22.959248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; to: Variants in this gene are associated with both syndromic and non-syndromic CL/P, over 20 families reported. Note some of the variants reported with isolated CL/P are susceptibility alleles.\r\n\r\nDeletions reported.",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:23:00.744404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:22:42.192862+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMP4: Added comment: Variants in this gene are associated with both syndromic and non-syndromic CL/P. Note some of the variants reported with isolated CL/P are susceptibility alleles.; Changed publications: 31053785, 19249007, 31909686, 21340693; Changed phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:20:12.391136+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:20:01.138387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:19:50.025654+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: BMP4.",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:19:28.105426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP2 as ready",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:19:28.095493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp2 has been classified as Green List (High Evidence).",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:19:13.514508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP2 were changed from to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:18:54.987957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP2 were set to ",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:18:34.813777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9677",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:18:15.490719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:56.479712+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP2 as ready",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:56.460769+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp2 has been classified as Green List (High Evidence).",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:51.772835+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP2 were changed from Short stature, palatal anomalies, congenital heart disease, and skeletal malformations; Brachydactyly, type A2 112600 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:38.268660+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP2 were set to ",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:26.461442+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:16:13.016806+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:14:20.057050+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP1 as ready",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:14:20.024549+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp1 has been classified as Green List (High Evidence).",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:14:17.731887+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:13:49.139756+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP1 were set to ",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:13:25.518285+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:13:01.413135+11:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:12:20.639983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP1 as ready",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:12:20.624231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp1 has been classified as Green List (High Evidence).",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:11:51.216466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9676",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP1 were changed from to Osteogenesis imperfecta, type XIII , MIM#614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:11:15.478741+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP1 were set to ",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:10:56.657610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:10:40.983708+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25402547, 22052668, 22482805, 25214535; Phenotypes: Osteogenesis imperfecta, type XIII , MIM#614856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:09:46.576675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP1 as ready",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:09:46.566704+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp1 has been classified as Green List (High Evidence).",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:09:42.668035+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP1 were changed from Osteogenesis imperfecta type XIII 614856 to Osteogenesis imperfecta, type XIII , MIM#614856",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:09:30.921268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP1 were set to 28513615",
"entity_name": "BMP1",
"entity_type": "gene"
},
{
"created": "2021-11-09T16:09:14.061244+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association. Prenatal fractures reported.; to: Well established gene-disease association. Prenatal fractures reported, PMID 25402547.",
"entity_name": "BMP1",
"entity_type": "gene"
}
]
}