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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1294",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1292",
"results": [
{
"created": "2021-06-16T08:07:07.200673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:06:56.907625+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:06:33.965557+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:06:11.281823+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:05:23.451671+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:05:23.435797+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:05:20.265276+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:04:47.068582+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:03:25.222426+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:03:25.212361+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:03:21.945605+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:02:50.543554+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC3 were set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:02:15.150905+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:02:15.140342+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:02:01.593012+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: G6PC3 as Green List (high evidence)",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:02:01.582029+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:01:52.918115+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: G6PC3 was added\ngene: G6PC3 was added to Pulmonary Arterial Hypertension. Sources: Expert Review\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: G6PC3 were set to 19118303; 20799326; 25492228; 17318259; 20616219\nPhenotypes for gene: G6PC3 were set to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541\nReview for gene: G6PC3 was set to GREEN\nAdded comment: Over 20 unrelated families reported, mouse models. Dursun syndrome describes a subset of patients with pulmonary hypertension. \nSources: Expert Review",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:00:52.823047+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T08:00:27.032020+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:59:37.789734+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: G6PC3: Changed phenotypes: Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:59:27.749261+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:59:27.738941+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:59:14.893017+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from to Neutropaenia, severe congenital 4, autosomal recessive, MIM# 612541; MONDO:0012930; Dursun syndrome, MIM# 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:58:41.877475+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PC3 were set to ",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:58:10.757056+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-16T07:57:38.639347+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118303, 20799326, 25492228, 17318259, 20616219; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541, MONDO:0012930, Dursun syndrome, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:34:07.148431+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCG as ready",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:34:07.130685+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancg has been classified as Green List (High Evidence).",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:34:04.922598+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCG were changed from to Fanconi anaemia, complementation group G, MIM# 614082; MONDO:0013565",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:33:47.671957+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCG were set to ",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:33:14.957396+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:32:16.039943+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCF as ready",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:32:16.029888+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancf has been classified as Green List (High Evidence).",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:32:12.793892+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCF were changed from to Fanconi anaemia, complementation group F 603467; MONDO:0011325",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:31:43.908380+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCF were set to ",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:31:14.353254+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FANCF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:17:52.177940+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:17:52.166482+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.252",
"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": "2021-06-15T21:17:42.967854+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCB were changed from to Fanconi anaemia, complementation group B, MIM# 300514",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:17:21.547915+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCB were set to ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:16:49.970754+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.250",
"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": "2021-06-15T21:16:24.964692+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.249",
"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; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:15:14.266454+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELANE as ready",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:15:14.254229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elane has been classified as Green List (High Evidence).",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:15:07.076911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:14:48.177994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:14:28.026991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:14:07.869804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: 19036076; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:13:42.531088+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELANE as ready",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:13:42.520766+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elane has been classified as Green List (High Evidence).",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:13:39.615963+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELANE were changed from to Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:13:14.114919+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELANE were set to ",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:12:46.826928+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:12:14.996976+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELANE: Changed publications: 19036076",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:11:41.940832+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:10:03.000288+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:10:02.987854+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:02:17.233948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFL1 as ready",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:02:17.223421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:02:08.404566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFL1 were changed from to Shwachman-Diamond syndrome 2, MIM# 617941",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:01:50.106837+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFL1 were set to ",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:01:30.744185+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:00:58.101573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:00:24.314315+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFL1 as ready",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:00:24.304448+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T21:00:21.084533+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFL1 were changed from to Shwachman-Diamond syndrome 2, MIM# 617941",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:59:43.572942+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFL1 were set to ",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:59:21.478468+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:58:58.281315+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28331068, 31151987; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:57:23.240512+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CXCR4 as ready",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:57:23.230975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Green List (High Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:57:13.111205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:56:55.860811+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CXCR4 were set to ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:56:37.873726+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:56:19.559429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:41.908370+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:41.897984+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:26.642755+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CXCR4 as ready",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:26.633613+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:24.140649+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CXCR4 were changed from to WHIM syndrome, MIM# 193670",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:55:01.476288+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CXCR4 were set to ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:54:34.475921+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:54:12.612150+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXCR4 as Amber List (moderate evidence)",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:54:12.601082+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:53:48.742199+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: AMBER; Mode of pathogenicity: None; Publications: 12692554; Phenotypes: WHIM syndrome, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:51:37.142461+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTC1 as Green List (high evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:51:37.133290+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:50:57.134373+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTC1 was added\ngene: CTC1 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199\nReview for gene: CTC1 was set to GREEN\nAdded comment: Progressive cognitive decline.\r\n\r\nCerebroretinal microangiopathy with calcifications and cysts (CRMCC), also known as Coats plus syndrome, is an autosomal recessive pleomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anaemia and thrombocytopaenia. More than 30 unrelated patients reported. \nSources: Expert Review",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:49:26.908699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:49:26.898061+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:49:22.160676+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:48:47.087605+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:48:14.485276+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CTC1 as Amber List (moderate evidence)",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:48:14.474118+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:47:41.304686+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:46:30.805423+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:44:25.517894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTC1 as ready",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:44:25.504029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctc1 has been classified as Green List (High Evidence).",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:44:07.662225+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTC1 were changed from to Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199",
"entity_name": "CTC1",
"entity_type": "gene"
},
{
"created": "2021-06-15T20:43:49.892021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTC1 were set to ",
"entity_name": "CTC1",
"entity_type": "gene"
}
]
}