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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1346",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1344",
"results": [
{
"created": "2021-04-22T13:32:40.722234+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCE were set to ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:32:17.783082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:31:59.861409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:31:13.999101+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCE as ready",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:31:13.990152+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:31:11.043465+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCE were changed from to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:30:46.450590+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCE were set to ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:30:16.285490+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:29:51.599740+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001585, 31586946, 7662964, 9382107, 9147877, 10205272; Phenotypes: Fanconi anaemia, complementation group E, MIM# 600901, MONDO:0010953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:21:17.910085+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:21:17.900319+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:21:13.803553+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:20:44.902613+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCD2 were set to ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:20:21.526392+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:19:35.188678+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646, MONDO:0009214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:17:35.287636+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:17:35.278757+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:17:12.634263+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from Fanconi anaemia, complementation group D2, MIM# 227646 to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:15:53.225911+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from to Fanconi anaemia, complementation group D2, MIM# 227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:15:30.743177+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCD2 were set to ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:15:09.839733+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:14:45.365224+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17436244; Phenotypes: Fanconi anaemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:10:23.422116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MDM2 as ready",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:10:23.411833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdm2 has been classified as Red List (Low Evidence).",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:10:14.117614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MDM2 were changed from to Lessel-Kubisch syndrome, MIM# 618681",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:09:49.812229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MDM2 were set to ",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:09:28.771617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MDM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:09:10.458280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MDM2 as Red List (low evidence)",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T13:09:10.449559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mdm2 has been classified as Red List (Low Evidence).",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T11:15:15.994809+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7254",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: MDM2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28846075; Phenotypes: ?Lessel-Kubisch syndrome (MIM#618681); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MDM2",
"entity_type": "gene"
},
{
"created": "2021-04-22T09:39:41.602416+10:00",
"panel_name": "Tremors_Superpanel",
"panel_id": 3531,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added Panel Tremors_Superpanel\nSet child panels to: Dystonia - complex; Early-onset Parkinson disease; Paroxysmal Dyskinesia; Dystonia - isolated/combined\nSet panel types to: Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-04-21T21:07:27.494605+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMK2A as ready",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T21:07:27.484363+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Green List (High Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T21:07:17.028587+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CAMK2A was changed from None to Other",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T21:06:54.413608+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMK2A as Green List (high evidence)",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T21:06:54.404801+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camk2a has been classified as Green List (High Evidence).",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:29:17.129325+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:28:27.880313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:27:23.466130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:26:04.435359+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB11 as ready",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:26:04.423217+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:25:50.610325+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:24:57.447183+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB11 were set to ",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:24:22.567146+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:23:42.616651+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); 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": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:23:00.132837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFB11 as ready",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:23:00.100329+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Green List (High Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:22:15.350007+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:21:57.466379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFB11 were set to ",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T20:21:06.324193+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T16:34:44.512277+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: CAMK2A: Added comment: Chia (2018): 2 hom sibs with a missense, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Supported by functional work showing loss of function\r\nIsolated example of AR inheritance, all other reports are AD\r\n\r\nRudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID\r\n\r\nAkita (2018): seizures reported in 3/5 patients with de novo variants. GOF through loss of autoinhibition-> constitutive activation\r\n\r\nSources: Literature; Changed mode of pathogenicity: Other",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T16:25:29.969642+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1060",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CAMK2A was added\ngene: CAMK2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CAMK2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CAMK2A were set to PMID: 32600977; 29784083; 29560374\nPhenotypes for gene: CAMK2A were set to ?Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798\nReview for gene: CAMK2A was set to GREEN\nAdded comment: Chia (2018): 2 hom sibs with a missense, supported by functional work, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures.\r\nIsolated example of AR inheritance, all other reports are AD\r\n\r\nRudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID\r\n\r\nAkita (2018): seizures reported in 3/5 patients with de novo variants \nSources: Literature",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2021-04-21T15:30:52.738255+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7249",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: Variable syndromic features have been observed in affected individuals, however anaemia and cardiomyopathy appear to be consistent features in males and females, respectively (PMID: 28050600, PMID: 30423443, PMID: 27488349).\r\n\r\nAffected females have previously been reported with inherited pathogenic variants from their unaffected mothers. It has been suggested that this may be due to patterns of somatic X-chromosome inactivation, mosaicism or additional genetic or external factors (PMID: 28050600).\r\n\r\nAffected females have been reported with null alleles, whereas affected males have only been identified with missense variants or a recurrent single residue in-frame deletion, suggesting that some residual enzyme activity is required for males to be viable, whereas complete loss of function variants may be lethal when hemizygous (PMID: 30423443).\r\nNote: female carriers of missense variants have not been reported as clinically affected.\r\n\r\nWestern blots from cells of male patients with the recurrent F93del variant showed reduced protein levels, and recombinant cells demonstrated a proliferation defect, consistent with the anaemia phenotype (PMID: 27488349).; to: Variable syndromic features have been observed in affected individuals, however anaemia and cardiomyopathy appear to be consistent features in males and females, respectively (PMID: 28050600, PMID: 30423443, PMID: 27488349).\r\n\r\nIt has been suggested that heterozygous females do not display the severe phenotype associated with mitochondrial complex 1 deficiency due to highly skewed XCI favouring expression of the wild type allele, whereas these null variants result in a severe lethal disorder in hemizygous males (PMID: 25772934).\r\n\r\nAffected females have previously been reported with inherited pathogenic variants from their unaffected mothers. It has been suggested that this may be due to patterns of somatic X-chromosome inactivation, mosaicism or additional genetic or external factors (PMID: 28050600).\r\n\r\nAffected females have been reported with null alleles, whereas affected males have only been identified with missense variants or a recurrent single residue in-frame deletion, suggesting that some residual enzyme activity is required for males to be viable, whereas complete loss of function variants may be lethal when hemizygous (PMID: 30423443).\r\nNote: female carriers of missense variants have not been reported as clinically affected.\r\n\r\nWestern blots from cells of male patients with the recurrent F93del variant showed reduced protein levels, and recombinant cells demonstrated a proliferation defect, consistent with the anaemia phenotype (PMID: 27488349).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T15:28:56.649150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7249",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); 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": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-04-21T14:00:10.503054+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T14:00:10.491484+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T14:00:07.931267+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:59:43.504054+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:59:20.948187+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:58:55.722810+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:58:17.876022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:58:17.862409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:58:09.406208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:57:50.278271+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:57:30.699775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:57:13.194786+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:55:55.820492+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCC as ready",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:55:55.805043+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancc has been classified as Green List (High Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:55:52.854644+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from to Fanconi anemia, complementation group C, MIM# 227645; MONDO:0009213",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:55:30.545588+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:52:04.772389+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:51:34.572846+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MFAP5: Changed phenotypes: Aortic aneurysm, familial thoracic MIM# 616166, MONDO:0014514",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:51:18.428115+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFAP5 were changed from Aortic aneurysm, familial thoracic MIM# 616166 to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:50:38.852164+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFAP5 were changed from to Aortic aneurysm, familial thoracic MIM# 616166; MONDO:0014514",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:49:57.234456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFAP5 were set to ",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:49:35.329426+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:49:17.910560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFAP5 as Amber List (moderate evidence)",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:49:17.899231+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfap5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:49:01.173829+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 25434006, 30763214, 33807627, 33514025, 29524629; Phenotypes: Aortic aneurysm, familial thoracic MIM# 616166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:47:31.295831+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFAP5 were set to 25434006; 30763214",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:46:04.284971+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:45:33.915365+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31044565, 30792206, 28717661; Phenotypes: Fanconi anemia, complementation group C, MIM# 227645, MONDO:0009213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-04-21T13:35:49.634975+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.22",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: MFAP5: Rating: AMBER; Mode of pathogenicity: None; Publications: 33807627, 33514025, 29524629; Phenotypes: Aortic aneurysm, familial thoracic 9 (MIM#616166); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MFAP5",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:54:29.697694+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:54:29.686942+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:54:26.707969+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:53:58.301232+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:53:37.105000+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:53:10.862289+10:00",
"panel_name": "Radial Ray Abnormalities",
"panel_id": 163,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514, MONDO:0010351; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:52:25.237807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:52:25.224424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:52:17.544966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:51:56.590863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:51:36.547597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:51:19.073220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anaemia, complementation group B, MIM# 300514, MONDO:0010351; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:50:19.589814+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:50:19.578731+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:50:16.988879+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from Fanconi anaemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514; MONDO:0010351",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:49:41.863472+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from Fanconi anemia, complementation group B, MIM# 300514 to Fanconi anaemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-04-21T11:49:19.818650+10:00",
"panel_name": "Chromosome Breakage Disorders",
"panel_id": 79,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
}
]
}