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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1375",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1373",
"results": [
{
"created": "2021-03-23T19:41:08.103716+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: BMPR2 was changed from to Other",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:40:49.377846+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:42:57.985381+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6863",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33244166, 32174975, 30006928, 27312080; Phenotypes: Ohdo syndrome, X-linked MIM#300895, Lujan-Fryns syndrome MIM#309520, Opitz-Kaveggia syndrome MIM#305450; 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": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:39:46.863380+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6863",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: BMPR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 33380512; Phenotypes: Pulmonary venoocclusive disease 1 MIM#265450, Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:25:46.705845+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF711 as ready",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:25:46.696438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf711 has been classified as Green List (High Evidence).",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:25:38.121261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:25:19.960125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF711 were set to ",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:24:59.834625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF711 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:24:42.818346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: 27993705, 19377476; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:24:38.247098+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF711 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:23:30.727267+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF711 as ready",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:23:30.716498+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf711 has been classified as Green List (High Evidence).",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:23:26.611850+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:22:59.279720+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF711 were set to ",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:22:23.905078+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF711 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": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:21:10.086105+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:21:10.069356+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:21:06.594733+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: XIAP were changed from to X-linked lymphoproliferative syndrome 2; inflammatory bowel disease; colitis",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-23T15:20:42.880539+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: XIAP were set to ",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:52:10.561836+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: XIAP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:50:57.617064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:50:57.596545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:50:47.893198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from to Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854; Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:50:23.418608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A2 were set to ",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:50:02.902413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35A2 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": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:49:46.055818+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:49:31.570309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561849, 24115232, 27743886, 25778940, 33407896; Phenotypes: Congenital disorder of glycosylation, type IIm (MIM #300896) 30817854, Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); 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": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:17:18.923698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3544",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ZNF711: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 27993705, 19377476; Phenotypes: Mental retardation, X-linked 97, OMIM #300803; 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": "ZNF711",
"entity_type": "gene"
},
{
"created": "2021-03-23T14:16:48.364519+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MEF2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:42:08.365112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MEF2A as ready",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:42:08.350379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2a has been classified as Red List (Low Evidence).",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:42:00.946314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MEF2A were changed from to {Coronary artery disease, autosomal dominant, 1} 608320",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:41:41.231556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MEF2A as Red List (low evidence)",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:41:41.220631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mef2a has been classified as Red List (Low Evidence).",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T13:41:09.718553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MEF2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, autosomal dominant, 1} 608320; Mode of inheritance: None",
"entity_name": "MEF2A",
"entity_type": "gene"
},
{
"created": "2021-03-23T12:40:12.559553+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: TNFSF11 were changed from Osteoperosis, autosomal recessive 2 MIM#259710 to Osteopetrosis, autosomal recessive 2 MIM#259710",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-23T12:39:43.547131+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: >3 cases reported with osteoclast poor osteoporosis, and a supporting null mouse model. \nSources: Expert list; to: >3 cases reported with osteoclast poor osteopetrosis, and a supporting null mouse model. \r\nSources: Expert list",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-23T12:39:34.290854+11:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: TNFSF11: Changed phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2021-03-22T22:02:36.862412+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.51",
"user_name": "Lavvina Thiyagarajan",
"item_type": "entity",
"text": "reviewed gene: XIAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 25666262, 17080092, 21173700, 25943627, 22228567, 26182687, 31232887; Phenotypes: X-linked lymphoproliferative syndrome 2, inflammatory bowel disease, colitis; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:17:49.321511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FN1 as ready",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:17:49.309184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fn1 has been classified as Green List (High Evidence).",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:17:40.279222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FN1 were changed from to Glomerulopathy with fibronectin deposits 2 (MIM#601894); Spondylometaphyseal dysplasia, corner fracture type (MIM#184255)",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:17:20.446998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FN1 were set to ",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:17:02.113006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:16:05.990571+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM67 as ready",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:16:05.980226+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem67 has been classified as Green List (High Evidence).",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:16:00.906309+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM67 were changed from to Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:15:33.551490+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM67 were set to ",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:15:04.436853+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:14:37.033197+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: 16415887, 17377820, 17160906, 19508969; Phenotypes: Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:11:07.045013+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35A2: Changed 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": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:58.630264+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35A2 as ready",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:58.616637+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:56.191200+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A2 were changed from Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) to Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:22.930261+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A2 as Green List (high evidence)",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:22.917012+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:10:01.090629+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: SLC35A2.",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:09:49.790559+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T21:06:55.563167+11:00",
"panel_name": "Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly",
"panel_id": 20,
"panel_version": "0.39",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly. Sources: Literature\nMode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLC35A2 were set to PMID: 33407896\nPhenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm (OMIM 300896); mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)\nReview for gene: SLC35A2 was set to GREEN\nAdded comment: somatic variants reported in MOGHE (PMID 33407896). \nSources: Literature",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:34:04.498668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL37 as ready",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:34:04.485146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il37 has been classified as Red List (Low Evidence).",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:33:55.521943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL37 was added\ngene: IL37 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL37 were set to 33674380\nPhenotypes for gene: IL37 were set to Infantile inflammatory bowel disease\nReview for gene: IL37 was set to RED\nAdded comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data. \nSources: Literature",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:32:30.959793+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL37 as ready",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:32:30.945302+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il37 has been classified as Red List (Low Evidence).",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T20:31:46.038453+11:00",
"panel_name": "Inflammatory bowel disease",
"panel_id": 123,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL37 was added\ngene: IL37 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: IL37 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL37 were set to 33674380\nPhenotypes for gene: IL37 were set to Infantile inflammatory bowel disease\nReview for gene: IL37 was set to RED\nAdded comment: Single family reported with homozygous truncating variant this gene and infantile-onset of IBD, some functional data. \nSources: Literature",
"entity_name": "IL37",
"entity_type": "gene"
},
{
"created": "2021-03-22T17:29:52.194387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6850",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30640048; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870), Peroxisome biogenesis disorder 6B (MIM#614871); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2021-03-22T17:28:00.724924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6850",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100092; Phenotypes: Glomerulopathy with fibronectin deposits 2 (MIM#601894), Spondylometaphyseal dysplasia, corner fracture type (MIM#184255); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "FN1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:44:17.171968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRDL1 as ready",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:44:17.162395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrdl1 has been classified as Green List (High Evidence).",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:44:10.342506+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRDL1 were changed from to Megalocornea OMIM# 309300",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:43:07.006617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRDL1 were set to ",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:42:48.771498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHRDL1 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": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T15:42:32.064041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25093588; Phenotypes: Megalocornea OMIM# 309300; 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": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:51:15.879424+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SEC61A1 as Amber List (moderate evidence)",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:51:15.865784+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:50:30.180357+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MSN as Green List (high evidence)",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:50:30.171139+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: msn has been classified as Green List (High Evidence).",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:45:13.616284+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSN was added\ngene: MSN was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: MSN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MSN were set to 27405666\nPhenotypes for gene: MSN were set to Immunodeficiency 50, MIM# 300988",
"entity_name": "MSN",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:43:19.838409+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEC61A1 was added\ngene: SEC61A1 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: SEC61A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEC61A1 were set to 27392076; 32325141; 28782633\nPhenotypes for gene: SEC61A1 were set to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:13:01.184906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6847",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: HDL2 as ready",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-03-22T14:13:01.169738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6847",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-03-22T14:12:54.822106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6847",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: HDL2 as Green List (high evidence)",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-03-22T14:12:54.811894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6847",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: hdl2 has been classified as Green List (High Evidence).",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-03-22T14:11:58.725194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6846",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: HDL2 was added\nSTR: HDL2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: HDL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: HDL2 were set to 20301701\nPhenotypes for STR: HDL2 were set to Huntington disease-like 2 MIM#606438\nReview for STR: HDL2 was set to GREEN\nSTR: HDL2 was marked as clinically relevant\nAdded comment: NM_001271604.2:c.431CTG[X] or NM_020655.4:c.382+760CTG[X]\r\nIn an alternatively spliced exon, the repeat can be transcribed in both directions, leading to CUG (more common) or CAG (less common) repeat-containing transcripts. While a dominant RNA toxic effect may occur, the repeat expansion also reduces levels of the Junctophilin-3 protein\r\nNormal: ≤28 repeats\r\nQuestionable significance: 29-39 repeats, mutable normal or reduced penetrance included\r\nFull penetrance: ≥40 repeats \nSources: Expert list",
"entity_name": "HDL2",
"entity_type": "str"
},
{
"created": "2021-03-22T14:09:19.026928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6845",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: JPH3 as No list",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:09:19.022303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6845",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: See STRs for this panel",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2021-03-22T14:09:18.988036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6845",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: jph3 has been removed from the panel.",
"entity_name": "JPH3",
"entity_type": "gene"
},
{
"created": "2021-03-22T12:02:09.904919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6844",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: DM2 as ready",
"entity_name": "DM2",
"entity_type": "str"
},
{
"created": "2021-03-22T12:02:09.894968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6844",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dm2 has been classified as Green List (High Evidence).",
"entity_name": "DM2",
"entity_type": "str"
},
{
"created": "2021-03-22T11:57:05.036083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6844",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: DM2 as Green List (high evidence)",
"entity_name": "DM2",
"entity_type": "str"
},
{
"created": "2021-03-22T11:57:05.019403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6844",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: dm2 has been classified as Green List (High Evidence).",
"entity_name": "DM2",
"entity_type": "str"
},
{
"created": "2021-03-22T11:56:27.797901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6843",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: DM2 was added\nSTR: DM2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: DM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: DM2 were set to 20301639; 29325606\nPhenotypes for STR: DM2 were set to Myotonic dystrophy 2 MIM#602668\nReview for STR: DM2 was set to GREEN\nSTR: DM2 was marked as clinically relevant\nAdded comment: HGVS nomenclature: NM_003418.4:c.-14-833_-14-830[X]\r\nToxic gain of function RNA expected mechanism of disease\r\nNormal: ≤30 uninterrupted CCTG repeats, 11-26 CCTG repeats with any GCTC or TCTG interruptions\r\nUnknown significance (normal vs. mutable): 27-29 CCTG repeats\r\nMutable normal (premutation) alleles. ~30-~54 CCTG repeats\r\nUnknown significance (premutation vs pathogenic): ~55-74 CCTG repeats\r\nPathogenic: ~75-11,000 CCTG repeats \nSources: Expert list",
"entity_name": "DM2",
"entity_type": "str"
},
{
"created": "2021-03-22T11:51:39.854715+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6842",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CNBP as ready",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:51:39.839221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6842",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cnbp has been removed from the panel.",
"entity_name": "CNBP",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:50:36.866012+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: CHRDL1 as ready",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:50:36.851084+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: chrdl1 has been classified as Green List (High Evidence).",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:50:32.473434+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CHRDL1 as Green List (high evidence)",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:50:32.465050+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: chrdl1 has been classified as Green List (High Evidence).",
"entity_name": "CHRDL1",
"entity_type": "gene"
},
{
"created": "2021-03-22T11:50:12.277492+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "1.2",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: CHRDL1 as Green List (high evidence)",
"entity_name": "CHRDL1",
"entity_type": "gene"
}
]
}