{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1375","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}