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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1090",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1088",
"results": [
{
"created": "2021-12-10T15:18:02.799177+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:10:40.018799+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG1 were set to 19558595; 23974871; 29229434",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:10:24.647053+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSG1 were set to 19558595; 23974871",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:09:37.836828+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DSG1 as Green List (high evidence)",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:09:37.826455+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg1 has been classified as Green List (High Evidence).",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:08:27.325122+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP65 were set to 31501240; 31413122",
"entity_name": "CFAP65",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:07:44.254706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF212 as ready",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:07:44.243934+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf212 has been classified as Red List (Low Evidence).",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:07:34.903269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RNF212 were changed from to Recombination rate QTL 1, MIM#612042",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:07:11.842301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RNF212 were set to ",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:06:46.311398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF212 as Red List (low evidence)",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T15:06:46.301229+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf212 has been classified as Red List (Low Evidence).",
"entity_name": "RNF212",
"entity_type": "gene"
},
{
"created": "2021-12-10T14:39:06.238468+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.828963+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XRCC2 was added\ngene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: XRCC2 was set to Unknown\nPhenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.782155+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WRAP53 was set to Unknown\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.734796+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WIPF1 was added\ngene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WIPF1 was set to Unknown\nPhenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.687241+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WAS was set to Unknown\nPhenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.640579+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS45 was added\ngene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: VPS45 was set to Unknown\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.583914+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: UBE2T was set to Unknown\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.512229+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TINF2 was set to Unknown\nPhenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.440430+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: THPO was set to Unknown\nPhenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.393464+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TERT was set to Unknown\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.346893+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TERC was set to Unknown\nPhenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.295169+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP54 was added\ngene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SRP54 was set to Unknown\nPhenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.244720+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLX4 was added\ngene: SLX4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLX4 was set to Unknown\nPhenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM# 613951",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.197864+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A38 was added\ngene: SLC25A38 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to Unknown\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950",
"entity_name": "SLC25A38",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.150833+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to Unknown\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.098660+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SEC23B was set to Unknown\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.049902+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SBDS was added\ngene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SBDS was set to Unknown\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:05.002996+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9L was added\ngene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SAMD9L was set to Unknown\nPhenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550",
"entity_name": "SAMD9L",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.955174+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SAMD9 was set to Unknown\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.908448+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RUNX1 was set to Unknown\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.859847+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RTEL1 was added\ngene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RTEL1 was set to Unknown\nPhenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.812496+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS7 was added\ngene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS7 was set to Unknown\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939",
"entity_name": "RPS7",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.766347+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS29 was added\ngene: RPS29 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS29 was set to Unknown\nPhenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MIM# 615909",
"entity_name": "RPS29",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.718943+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS27 was added\ngene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS27 was set to Unknown\nPhenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409",
"entity_name": "RPS27",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.672756+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS26 was added\ngene: RPS26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS26 was set to Unknown\nPhenotypes for gene: RPS26 were set to MONDO:0013217; Diamond-Blackfan anemia 10, MIM# 613309",
"entity_name": "RPS26",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.626683+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS24 was added\ngene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS24 was set to Unknown\nPhenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629",
"entity_name": "RPS24",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.578086+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS20 was added\ngene: RPS20 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS20 was set to Unknown\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia",
"entity_name": "RPS20",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.532032+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS19 was added\ngene: RPS19 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS19 was set to Unknown\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110",
"entity_name": "RPS19",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.478181+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS17 was added\ngene: RPS17 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS17 was set to Unknown\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924",
"entity_name": "RPS17",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.432576+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPS10 was added\ngene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS10 was set to Unknown\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308",
"entity_name": "RPS10",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.386334+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL9 was added\ngene: RPL9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL9 was set to Unknown\nPhenotypes for gene: RPL9 were set to Diamond Blackfan anaemia",
"entity_name": "RPL9",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.337325+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL5 was added\ngene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL5 was set to Unknown\nPhenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561",
"entity_name": "RPL5",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.290730+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL35A was added\ngene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL35A was set to Unknown\nPhenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528",
"entity_name": "RPL35A",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.243065+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL31 was added\ngene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL31 was set to Unknown\nPhenotypes for gene: RPL31 were set to Diamond Blackfan anaemia",
"entity_name": "RPL31",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.191345+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL27 was added\ngene: RPL27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL27 was set to Unknown\nPhenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, MIM# 617408",
"entity_name": "RPL27",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.146180+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL26 was added\ngene: RPL26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL26 was set to Unknown\nPhenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900",
"entity_name": "RPL26",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.098267+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL15 was added\ngene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL15 was set to Unknown\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550",
"entity_name": "RPL15",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.052830+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPL11 was added\ngene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL11 was set to Unknown\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938",
"entity_name": "RPL11",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:04.008231+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RPA1 was added\ngene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPA1 was set to Unknown\nPhenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes",
"entity_name": "RPA1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.963526+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RBM8A was set to Unknown\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.919411+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RAD51C was set to Unknown\nPhenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.874753+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PUS1 was added\ngene: PUS1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PUS1 was set to Unknown\nPhenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.830114+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PARN was added\ngene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PARN was set to Unknown\nPhenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353",
"entity_name": "PARN",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.786285+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PALB2 was set to Unknown\nPhenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.742414+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHP2 was added\ngene: NHP2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: NHP2 was set to Unknown\nPhenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987",
"entity_name": "NHP2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.698745+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBEAL2 was added\ngene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: NBEAL2 was set to Unknown\nPhenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.654476+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYSM1 was added\ngene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MYSM1 was set to Unknown\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.604475+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MYH9 was set to Unknown\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.560239+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MPL was set to Unknown\nPhenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.499292+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MECOM was set to Unknown\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.448573+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: LYST was set to Unknown\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome (CHS)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.402390+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: LIG4 was set to Unknown\nPhenotypes for gene: LIG4 were set to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.356956+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLF1 was added\ngene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: KLF1 was set to Unknown\nPhenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673",
"entity_name": "KLF1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.311713+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: JAGN1 was set to Unknown\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.265148+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB3 was added\ngene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ITGB3 was set to Unknown\nPhenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.220478+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA2B was added\ngene: ITGA2B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ITGA2B was set to Unknown\nPhenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.176185+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA11 was added\ngene: HOXA11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: HOXA11 was set to Unknown\nPhenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432",
"entity_name": "HOXA11",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.129737+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: HAX1 was set to Unknown\nPhenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.085071+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GP9 was added\ngene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP9 was set to Unknown\nPhenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:03.035709+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GP1BB was added\ngene: GP1BB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP1BB was set to Unknown\nPhenotypes for gene: GP1BB were set to Bernard-Soulier syndrome (BSS)",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.984508+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GP1BA was added\ngene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP1BA was set to Unknown\nPhenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.941185+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLRX5 was added\ngene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GLRX5 was set to Unknown\nPhenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860",
"entity_name": "GLRX5",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.897512+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFI1B was added\ngene: GFI1B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GFI1B was set to Unknown\nPhenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17",
"entity_name": "GFI1B",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.852963+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFI1 was added\ngene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GFI1 was set to Unknown\nPhenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107",
"entity_name": "GFI1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.806316+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GATA2 was set to Unknown\nPhenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Immunodeficiency 21, MIM# 614172; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.761089+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA1 was added\ngene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GATA1 was set to Unknown\nPhenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.710510+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: G6PC3 was set to Unknown\nPhenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.665572+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FLI1 was added\ngene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FLI1 was set to Unknown\nPhenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome",
"entity_name": "FLI1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.620810+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCM was set to Unknown\nPhenotypes for gene: FANCM were set to Fanconi anaemia",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.569990+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCL was set to Unknown\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.521251+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCI was set to Unknown\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.462541+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCG was set to Unknown\nPhenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.416493+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCF was added\ngene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCF was set to Unknown\nPhenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.368796+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCE was added\ngene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCE was set to Unknown\nPhenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.323658+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to Unknown\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.272799+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCC was set to Unknown\nPhenotypes for gene: FANCC were set to MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.231030+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCB was set to Unknown\nPhenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.189205+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCA was set to Unknown\nPhenotypes for gene: FANCA were set to MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.147149+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETV6 was added\ngene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ETV6 was set to Unknown\nPhenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216",
"entity_name": "ETV6",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.105627+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC6L2 was added\ngene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ERCC6L2 was set to Unknown\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.063826+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to Unknown\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:02.021694+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ELANE was added\ngene: ELANE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ELANE was set to Unknown\nPhenotypes for gene: ELANE were set to Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.978697+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFL1 was added\ngene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: EFL1 was set to Unknown\nPhenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.937255+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNAJC21 was added\ngene: DNAJC21 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DNAJC21 was set to Unknown\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052",
"entity_name": "DNAJC21",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.895054+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DKC1 was set to Unknown\nPhenotypes for gene: DKC1 were set to Hoyeraal-Hreidarsson Syndrome; Dyskeratosis congenita, X-linked 305000",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.853415+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DIAPH1 was added\ngene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DIAPH1 was set to Unknown\nPhenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.810723+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DDX41 was added\ngene: DDX41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DDX41 was set to Unknown\nPhenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871",
"entity_name": "DDX41",
"entity_type": "gene"
},
{
"created": "2021-12-10T13:57:01.768560+11:00",
"panel_name": "IBMDx study",
"panel_id": 3829,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYCS was added\ngene: CYCS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CYCS was set to Unknown\nPhenotypes for gene: CYCS were set to Autosomal dominant thrombocytopenia 4",
"entity_name": "CYCS",
"entity_type": "gene"
}
]
}