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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=924",
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"results": [
{
"created": "2022-03-22T12:34:20.942487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACP4 were changed from to Amelogenesis imperfecta, type IJ MIM#617297",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:34:17.398477+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11715",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACP4 were set to ",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:34:06.092441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11714",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ACP4 as ready",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:34:06.029783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11714",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: acp4 has been classified as Green List (High Evidence).",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:33:55.852304+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11714",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACP4",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:33:19.438143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11713",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACHE were set to ",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:33:18.177098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11713",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACHE were changed from to [Blood group, Yt system] MIM#112100",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:33:07.221221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11712",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ACHE as Red List (low evidence)",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:33:07.208433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11712",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ache has been classified as Red List (Low Evidence).",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:30:28.997770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11711",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACHE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12783426, 8488842; Phenotypes: [Blood group, Yt system] MIM#112100; Mode of inheritance: Unknown",
"entity_name": "ACHE",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:16:34.870534+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11711",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria MIM#610006",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T12:02:05.793621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11710",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2022-03-22T11:57:29.356750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11709",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ACADSB were set to ",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T11:57:24.162199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11709",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T11:57:04.640193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11708",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ACADSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25778941, 17945527; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADSB",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:54:32.154957+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:54:32.145022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:54:22.432927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopaenia, X-linked, MIM# 313900; Neutropenia, severe congenital, X-linked , MIM#300299",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:54:03.192099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAS were set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:53:36.566651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:53:17.226062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome, MIM# 301000, Thrombocytopaenia, X-linked, MIM# 313900, Neutropenia, severe congenital, X-linked , MIM#300299; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-22T10:16:38.796155+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.109",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2022-03-22T08:45:42.483365+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11705",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30969660, 34307257, 20301357; Phenotypes: Congenital Neutropenia, Throbocytopenia, Immunodefeciency, Eczema; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:40:41.334793+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC13D as ready",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:40:41.320431+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc13d has been classified as Green List (High Evidence).",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:40:38.555000+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:40:12.220892+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13D were set to ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:39:40.866010+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:39:08.177376+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:38:52.807193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:38:32.812536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC13D were set to ",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:38:04.607615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:32:57.978519+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8A as ready",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:32:57.968686+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:32:54.850740+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:32:24.739447+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C8A were set to ",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:31:39.340011+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:31:10.310433+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8A as Amber List (moderate evidence)",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:31:10.299067+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:30:39.506271+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:29:33.279632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C8A as ready",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:29:33.268405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:29:25.303185+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:29:04.818376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C8A were set to ",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:28:45.297376+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:28:26.234179+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C8A as Amber List (moderate evidence)",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:28:26.223261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c8a has been classified as Amber List (Moderate Evidence).",
"entity_name": "C8A",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:27:47.721313+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:27:47.709993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:27:37.861257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:27:15.917701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:26:55.399693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:25:56.176870+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC119 as ready",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:25:56.165710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Green List (High Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:25:48.555362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC119 were changed from to Cone-rod dystrophy, MONDO:0015993; Immunodeficiency 13 MIM#615518",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:25:28.981454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC119 were set to ",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:25:02.760238+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC119 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:24:41.105174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC119 as Green List (high evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:24:41.095417+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Green List (High Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:24:12.124894+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC119 as ready",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:24:12.113921+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Green List (High Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:24:07.774029+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC119 were set to 30679166",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:23:55.157038+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC119 were changed from ?Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:23:37.156373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.\r\n\r\nAmber for association with cone-rod dystrophy.; to: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.\r\n\r\nBorderline Green for association with cone-rod dystrophy.",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:23:24.940960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC119: Changed rating: GREEN",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:23:06.446897+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UNC119 as Amber List (moderate evidence)",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:23:06.434411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc119 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:22:48.030454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: None; Publications: 22184408; Phenotypes: Cone-rod dystrophy, MONDO:0015993, Immunodeficiency 13 MIM#615518; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UNC119",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:19:57.030056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMD9 as ready",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:19:57.018322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samd9 has been classified as Green List (High Evidence).",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:18:18.831191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM#617053; Tumoral calcinosis, familial, normophosphatemic, MIM#610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:17:59.268802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMD9 were set to ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:17:04.170839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMD9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:16:44.620187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:11:11.174781+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UCP3 as ready",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:11:11.165322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ucp3 has been classified as Red List (Low Evidence).",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:11:01.335387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UCP3 were set to ",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:10:38.096779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UCP3 were changed from to {Obesity, severe, and type II diabetes}, MIM#601665",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:10:11.906515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:09:53.061340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UCP3 as Red List (low evidence)",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:09:53.052647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11684",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ucp3 has been classified as Red List (Low Evidence).",
"entity_name": "UCP3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:08:08.287325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS3 as ready",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:08:08.277855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:08:00.505038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11683",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:07:41.080773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11682",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS3 were set to ",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:07:18.772386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:06:44.413818+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS3 as ready",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:06:44.402124+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:03:15.520550+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:02:32.821227+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS3 were set to ",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:01:58.190378+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:01:29.219945+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDUFS3 as Red List (low evidence)",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:01:29.210810+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Red List (Low Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:00:28.997646+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS3 as ready",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:00:28.986366+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T18:00:22.399246+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:59:44.131834+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFS3 were set to ",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:59:04.792369+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:58:03.919400+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS3 as ready",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T17:58:03.899510+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.442",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs3 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS3",
"entity_type": "gene"
}
]
}