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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1211",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1209",
"results": [
{
"created": "2021-09-16T18:11:20.466967+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps7 has been classified as Green List (High Evidence).",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:11:18.203362+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS7 were changed from Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 to Diamond-Blackfan anaemia 8, MIM# 612563; MONDO:0012939",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:11:07.316881+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPS7 were set to 19061985; 27882484; 23718193",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:10:32.707218+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:10:32.697226+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:10:30.899668+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from 260400 Shwachman-Diamond syndrome; Shwachman-Diamond syndrome to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:55.250813+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC23B as ready",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:55.240874+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec23b has been classified as Green List (High Evidence).",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:51.998197+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC23B were changed from Congenital Dyserythropoietic Anemia; ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; 224100 ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II; Anemia, dyserythropoieticcongenital, type II, 224100; Congenital dyserythropoietic anemia type II; 224100 Congenital dyserythropoietic anaemia type 2 to Dyserythropoietic anaemia, congenital, type II , MIM#224100",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:40.433379+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC23B were set to 19561605",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:12.689762+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:12.680261+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:09:10.816293+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from 249270 Thiamine-Responsive Megaloblastic Anemia syndrome; Thiamine-Responsive Megaloblastic Anemia syndrome, 249270; 249270 Thiamine-responsive megaloblastic anemia syndrome to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:08:18.887078+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A38 as ready",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:08:18.865742+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a38 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:08:16.728302+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A38 were changed from Anemia, sideroblastic, 2, pyridoxine-refractory, 205950; 205950 Pyridoxine refractory sideroblastic anaemia 2; 205950 Anemia, sideroblastic, 2, pyridoxine-refractory to Anaemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:07:19.095102+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XK as ready",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:07:19.085456+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xk has been classified as Green List (High Evidence).",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:07:17.121012+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XK were changed from 300842 McLeod syndrome to McLeod syndrome with or without chronic granulomatous disease MIM# 300842; absence of red blood cell Kx antigen; weak expression of Kell red blood cell antigens; neuroacanthocytosis (peripheral and central nervous systems); cardiovascular abnormalities; myopathy",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:07:08.757246+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XK were set to 17683354; 11761473",
"entity_name": "XK",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:30.182625+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NHP2 as ready",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:30.172274+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Red List (Low Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:23.097142+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NHP2 were changed from 613987 Dyskeratosis congenita, autosomal recessive 2 to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:15.322198+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NHP2 were set to ",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:07.250153+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NHP2 as Red List (low evidence)",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:06:07.236972+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nhp2 has been classified as Red List (Low Evidence).",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:58.873574+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Clinical manifestations include mucocutaneous abnormalities, bone marrow failure, and an increased predisposition to cancer, among other variable features. Three unrelated families reported.; to: Pancytopaenia.",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:48.208427+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NHP2: Changed rating: RED",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:17.423622+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPL18 as ready",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:17.409709+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpl18 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:15.485562+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPL18 were changed from Diamond-Blackfan anaemia to Diamond-Blackfan anemia 18, MIM# 618310",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:05:07.509812+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPL18 were set to 28280134",
"entity_name": "RPL18",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:04:36.502092+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPS28 as ready",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:04:36.492554+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rps28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:04:34.704997+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:04:27.872204+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPS28 were changed from 606164 Diamond Blackfan anemia 15 with mandibulofacial dysostosis; Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 to Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164",
"entity_name": "RPS28",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:51.345710+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSR2 as ready",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:51.335797+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsr2 has been classified as Red List (Low Evidence).",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:49.465178+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSR2 were changed from 300946 ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis; ?Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, 300946 to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MIM# 300946",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:35.081328+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TSR2 as Red List (low evidence)",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:35.069370+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsr2 has been classified as Red List (Low Evidence).",
"entity_name": "TSR2",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:01.876461+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:03:01.866026+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:51.717161+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from 301040 Alpha-thalassemia/mental retardation syndrome to Alpha-thalassaemia/mental retardation syndrome, MIM# 301040",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:43.425928+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATRX were set to 19444090; 17579672; 11449489",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:33.231642+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATRX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:24.312998+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRX as Green List (high evidence)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:24.303388+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:02:15.168145+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: None; Publications: 7697714; Phenotypes: Alpha-thalassaemia/mental retardation syndrome, MIM# 301040; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:00:19.440049+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DKC1 as ready",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:00:19.429979+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dkc1 has been classified as Red List (Low Evidence).",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:00:17.339162+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DKC1 were changed from 305000 Dyskeratosis congenita, X-linked to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T18:00:08.769271+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DKC1 were set to ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:59:57.002263+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. It is characterized by short telomeres. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Males may have testicular atrophy. Predisposition to malignancy is an important feature.\r\n\r\nHoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood.\r\n\r\nPMID: 25940403, at least 13 of the variants associated with dyskeratosis congenita were also reported to cause HHS: P10L, I38T, T66A, T67I, H68Q, H68Y, S121G, R158W, K314R, A353V, R378Q, A386T and IVS12+1, so NOT only variants in exon 11. Two mutations were only found in HH, T49M and S304N.; to: Pancytopaenia rather than a red cell disorder.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:56:18.321472+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DKC1: Changed rating: RED",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:55:38.779242+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:HBE1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-09-16T17:54:54.342877+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B1 as ready",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:54:54.332982+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Red List (Low Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:54:48.045388+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SF3B1 were changed from 605590 Refractory anaemia with ring sideroblasts to Myelodysplastic syndrome, somatic MIM# 614286",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:51:19.941570+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SF3B1 was changed from Unknown to Other",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:51:11.833518+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SF3B1.",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:51:07.117279+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9162",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: FCGR2B: Rating: RED; Mode of pathogenicity: None; Publications: 12115230, 15153543, 20385827; Phenotypes: {Systemic lupus erythematosus, susceptibility to} MIM#152700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FCGR2B",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:49:31.987976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPX1 as ready",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:49:31.977324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx1 has been classified as Red List (Low Evidence).",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:49:21.973964+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPX1 was added\ngene: GPX1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPX1 were set to 1131421; 476008; 5766310; 2492138\nPhenotypes for gene: GPX1 were set to Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164\nReview for gene: GPX1 was set to RED\nAdded comment: No individuals reported with GPX1 variants identified as the cause of Haemolytic anaemia due to glutathione peroxidase deficiency. Multiple papers report a number of cases of Haemolytic anaemia due to glutathione peroxidase deficiency, however there is no defined link or variant to GPX1 (PMID: 5766310. PMID: 1131421, PMID: 2492138, PMID: 476008) \r\n\r\nOverall, lowered glutathione peroxidase activity has been observed in a number of individuals with haemolytic anaemia however the evidence for a cause-and-effect relationship between the enzyme deficiency and the presenting anaemia is not evident. \nSources: Expert Review",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:47:10.688695+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPX1 as ready",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:47:10.677450+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpx1 has been classified as Red List (Low Evidence).",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:47:08.160642+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPX1 were changed from 614164 Hemolytic anemia due to glutathione peroxidase deficiency to Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T17:46:38.881754+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPX1 were set to 1131421",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:53:37.961227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP51A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:52:34.652888+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CYP51A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22935719, 26622071, 27878435, 25148791; Phenotypes: Congenital cataract, infantile liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:51:46.197368+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.289",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CYP51A1 were changed from to Congenital cataract; infantile liver disease",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:51:14.856653+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.288",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CYP51A1 were set to ",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:40:22.302089+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP51A1 as ready",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:40:22.291155+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp51a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T16:40:05.788867+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.287",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CYP51A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22935719, 26622071, 27878435, 25148791; Phenotypes: Congenital cataract, infantile liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP51A1",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:57:24.576832+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYB5A as ready",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:57:24.563765+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyb5a has been classified as Green List (High Evidence).",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:57:00.850436+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYB5A were changed from to Methemoglobinaemia and ambiguous genitalia, MIM# 250790",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:56:28.349288+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYB5A were set to ",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:56:10.408365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYB5A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:55:40.798692+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYB5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22170710, 32051920; Phenotypes: Methemoglobinemia and ambiguous genitalia 250790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:54:11.183749+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYB5A as ready",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:54:11.173991+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyb5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:54:08.811647+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYB5A were changed from 250790 Methemoglobinemia and ambiguous genitalia to Methemoglobinaemia and ambiguous genitalia MIM#250790",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:53:57.829025+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYB5A were set to 8168836; 20080843",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:53:46.327454+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CYB5A as Amber List (moderate evidence)",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:53:46.317527+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyb5a has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:51:09.818714+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTCD as ready",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:51:09.808186+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:51:07.573068+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTCD were changed from 229100 Glutamate formiminotransferase deficiency to Glutamate formiminotransferase deficiency MIM# 229100",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:50:58.000222+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTCD were set to 12815595",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:50:45.347190+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FTCD as Amber List (moderate evidence)",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:50:45.337400+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftcd has been classified as Amber List (Moderate Evidence).",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-09-16T15:22:46.390543+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.159",
"user_name": "Danielle Ariti",
"item_type": "entity",
"text": "reviewed gene: GPX1: Rating: RED; Mode of pathogenicity: None; Publications: 1131421, 476008, 5766310, 2492138; Phenotypes: Haemolytic anaemia due to glutathione peroxidase deficiency MIM#614164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPX1",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:54:49.368950+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2B3 as ready",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:54:49.358029+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:54:43.787001+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SH2B3 as Amber List (moderate evidence)",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:54:43.777252+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2b3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SH2B3",
"entity_type": "gene"
},
{
"created": "2021-09-16T13:54:34.825433+10:00",
"panel_name": "Red cell disorders",
"panel_id": 3366,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2B3 was added\ngene: SH2B3 was added to Red cell disorders. Sources: Expert Review\nsomatic tags were added to gene: SH2B3.\nMode of inheritance for gene: SH2B3 was set to Other\nPublications for gene: SH2B3 were set to 34349782; 23812944; 20843259\nPhenotypes for gene: SH2B3 were set to Erythrocytosis, somatic, MIM#\t133100\nMode of pathogenicity for gene: SH2B3 was set to Other\nReview for gene: SH2B3 was set to AMBER\nAdded comment: Limited reports, variants appear to be somatic. \nSources: Expert Review",
"entity_name": "SH2B3",
"entity_type": "gene"
}
]
}