{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=942","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=940","results":[{"created":"2022-03-11T17:26:26.502347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf6 has been classified as Red List (Low Evidence).","entity_name":"KLF6","entity_type":"gene"},{"created":"2022-03-11T17:26:14.144317+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11277","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLF6 as Red List (low evidence)","entity_name":"KLF6","entity_type":"gene"},{"created":"2022-03-11T17:26:14.134773+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klf6 has been classified as Red List (Low Evidence).","entity_name":"KLF6","entity_type":"gene"},{"created":"2022-03-11T17:25:40.191747+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11276","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"KLF6","entity_type":"gene"},{"created":"2022-03-11T17:24:03.988637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11276","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHDC8B as ready","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:24:03.977478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11276","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhdc8b has been classified as Red List (Low Evidence).","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:23:53.467488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11276","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHDC8B were changed from  to {Hodgkin lymphoma, susceptibility to} 236000","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:23:24.474110+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11275","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHDC8B as Red List (low evidence)","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:23:24.462821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhdc8b has been classified as Red List (Low Evidence).","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:22:58.908048+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11274","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHDC8B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hodgkin lymphoma, susceptibility to} 236000; Mode of inheritance: None","entity_name":"KLHDC8B","entity_type":"gene"},{"created":"2022-03-11T17:19:47.767150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11274","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL10 as ready","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:19:47.756906+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11274","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl10 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:19:31.382292+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11274","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL10 were changed from  to Spermatogenic failure 11, MIM# 615081","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:19:08.596536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11273","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL10 were set to ","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:18:46.720611+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11272","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLHL10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:18:25.214264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11271","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLHL10 as Amber List (moderate evidence)","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:18:25.202724+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl10 has been classified as Amber List (Moderate Evidence).","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T17:18:05.849983+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11270","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLHL10: Rating: AMBER; Mode of pathogenicity: None; Publications: 17047026, 15136734, 31479588; Phenotypes: Spermatogenic failure 11, MIM# 615081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KLHL10","entity_type":"gene"},{"created":"2022-03-11T13:30:51.233353+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4547","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T13:30:16.007050+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4546","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T13:29:54.726209+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1470","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T13:29:11.207629+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1469","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T13:28:19.044776+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXO28 were changed from Developmental and epileptic encephalopathy to Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T13:27:53.903306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11269","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FBXO28: Changed phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777","entity_name":"FBXO28","entity_type":"gene"},{"created":"2022-03-11T11:43:02.117687+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Yu Leng Phua","item_type":"entity","text":"Deleted their review","entity_name":"DZIP1L","entity_type":"gene"},{"created":"2022-03-11T11:42:56.754680+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Yu Leng Phua","item_type":"entity","text":"Deleted their comment","entity_name":"DZIP1L","entity_type":"gene"},{"created":"2022-03-11T11:35:27.280957+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TLN1 as ready","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:35:27.265956+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tln1 has been classified as Amber List (Moderate Evidence).","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:35:20.727990+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TLN1 as Amber List (moderate evidence)","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:35:20.718625+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.62","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tln1 has been classified as Amber List (Moderate Evidence).","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:33:08.452527+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.61","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TLN1 was added\ngene: TLN1 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLN1 were set to 30888838\nPhenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TLN1 was set to AMBER\nAdded comment: 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:28:39.417323+11:00","panel_name":"Renal Macrocystic Disease","panel_id":194,"panel_version":"0.42","user_name":"Yu Leng Phua","item_type":"entity","text":"reviewed gene: DZIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 35211789; Phenotypes: Polycystic kidney disease 5, MIM#617610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DZIP1L","entity_type":"gene"},{"created":"2022-03-11T11:27:23.660239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11269","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TLN1 as ready","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:27:23.644415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11269","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tln1 has been classified as Amber List (Moderate Evidence).","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:24:10.195383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11269","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TLN1 as Amber List (moderate evidence)","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:24:10.185940+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11269","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tln1 has been classified as Amber List (Moderate Evidence).","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:22:15.589116+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11268","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TLN1 was added\ngene: TLN1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TLN1 were set to 30888838\nPhenotypes for gene: TLN1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TLN1 was set to AMBER\nAdded comment: 10 unique rare heterozygous missense variants in 11 individuals were identified in a 2 generation SCAD family and 56 unrelated individuals with sporadic SCAD. All variants had a MAF of less than 0.06% and occurred within highly conserved β-integrin, F-actin, or vinculin binding domains. Incomplete penetrance was evident in the familial case and five individuals with sporadic SCAD from whom parental DNA was available. No functional assays were conducted. \nSources: Literature","entity_name":"TLN1","entity_type":"gene"},{"created":"2022-03-11T11:00:05.833831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11267","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NAT8L: Rating: AMBER; Mode of pathogenicity: None; Publications: 11310630, 19807691, 32275776; Phenotypes: ?N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAT8L","entity_type":"gene"},{"created":"2022-03-11T10:59:59.474363+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.9","user_name":"Krithika Murali","item_type":"entity","text":"gene: NAT8L was added\ngene: NAT8L was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature","entity_name":"NAT8L","entity_type":"gene"},{"created":"2022-03-11T10:59:52.781853+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4546","user_name":"Krithika Murali","item_type":"entity","text":"gene: NAT8L was added\ngene: NAT8L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature","entity_name":"NAT8L","entity_type":"gene"},{"created":"2022-03-11T10:59:47.330517+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.113","user_name":"Krithika Murali","item_type":"entity","text":"gene: NAT8L was added\ngene: NAT8L was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature","entity_name":"NAT8L","entity_type":"gene"},{"created":"2022-03-11T10:59:39.938814+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1469","user_name":"Krithika Murali","item_type":"entity","text":"gene: NAT8L was added\ngene: NAT8L was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 11310630; 19807691; 32275776\nPhenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063\nReview for gene: NAT8L was set to AMBER\nAdded comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies. \nSources: Literature","entity_name":"NAT8L","entity_type":"gene"},{"created":"2022-03-11T10:59:22.724227+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11267","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLK1 as ready","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:59:22.712768+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk1 has been classified as Red List (Low Evidence).","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:59:14.523364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11267","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLK1 were changed from  to [Kallikrein, decreased urinary activity of] 615953","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:58:54.300397+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLK1 as Red List (low evidence)","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:58:54.290308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk1 has been classified as Red List (Low Evidence).","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:58:36.556046+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11265","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Kallikrein, decreased urinary activity of] 615953; Mode of inheritance: None","entity_name":"KLK1","entity_type":"gene"},{"created":"2022-03-11T10:56:45.910192+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLKB1 as ready","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:56:45.900540+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klkb1 has been classified as Amber List (Moderate Evidence).","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:55:24.092348+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLKB1 as Amber List (moderate evidence)","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:55:24.082968+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klkb1 has been classified as Amber List (Moderate Evidence).","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:54:47.927831+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLKB1 was added\ngene: KLKB1 was added to Bleeding and Platelet Disorders. Sources: Expert Review\nMode of inheritance for gene: KLKB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLKB1 were set to 15461630; 33073460\nPhenotypes for gene: KLKB1 were set to Fletcher factor (prekallikrein) deficiency, MIM# 612423\nReview for gene: KLKB1 was set to AMBER\nAdded comment: Prolonged aPTT, but asymptomatic, hence some variants have a high gnomad frequency. \nSources: Expert Review","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:53:49.275208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLKB1 as ready","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:53:49.265230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klkb1 has been classified as Amber List (Moderate Evidence).","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:53:41.536460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLKB1 were changed from  to Fletcher factor (prekallikrein) deficiency, MIM# 612423","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:53:19.350350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLKB1 were set to ","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:52:53.607654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLKB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:52:02.322133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11262","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLKB1 as Amber List (moderate evidence)","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:52:02.307884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11262","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klkb1 has been classified as Amber List (Moderate Evidence).","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:51:44.070711+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11261","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLKB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15461630, 33073460; Phenotypes: Fletcher factor (prekallikrein) deficiency, MIM# 612423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLKB1","entity_type":"gene"},{"created":"2022-03-11T10:47:37.395493+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11261","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT1 as ready","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:47:37.381671+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11261","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt1 has been classified as Green List (High Evidence).","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:47:29.165896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11261","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT1 were changed from  to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602; Ichthyosis histrix, Curth-Macklin type, MIM# 146590; Palmoplantar keratoderma, epidermolytic, MIM# 144200; Palmoplantar keratoderma, nonepidermolytic, MIM# 600962","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:47:07.568130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11260","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT1 were set to ","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:46:42.299672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11259","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:46:22.926248+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11258","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7511022, 21271994, 11286630; Phenotypes: Epidermolytic hyperkeratosis, MIM#113800, Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM# 607602, Ichthyosis histrix, Curth-Macklin type, MIM# 146590, Palmoplantar keratoderma, epidermolytic, MIM# 144200, Palmoplantar keratoderma, nonepidermolytic, MIM# 600962; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT1","entity_type":"gene"},{"created":"2022-03-11T10:40:56.376359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11258","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT12 as ready","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:40:56.363652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11258","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt12 has been classified as Green List (High Evidence).","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:40:48.865926+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11258","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT12 were changed from  to Meesmann corneal dystrophy 1, MIM# 122100","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:39:59.088896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11257","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT12 were set to ","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:39:36.564252+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11256","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:39:14.029469+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11255","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT12","entity_type":"gene"},{"created":"2022-03-11T10:38:04.144946+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11255","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NAT2: Rating: RED; Mode of pathogenicity: None; Publications: 22409928, 33932406; Phenotypes: [Acetylation, slow] - MIM#243400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAT2","entity_type":"gene"},{"created":"2022-03-11T10:12:42.516420+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11255","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TSR1 as ready","entity_name":"TSR1","entity_type":"gene"},{"created":"2022-03-11T10:12:42.499907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11255","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tsr1 has been classified as Red List (Low Evidence).","entity_name":"TSR1","entity_type":"gene"},{"created":"2022-03-11T10:10:08.137955+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11255","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSR1 was added\ngene: TSR1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSR1 were set to 31296288; 31296287\nPhenotypes for gene: TSR1 were set to idiopathic spontaneous coronary artery dissection MONDO:0007385\nReview for gene: TSR1 was set to RED\nAdded comment: A single case-control study with 85 SCAD cases and 296 non-SCAD controls from the Chinese Han population that underwent exome sequencing. TSR1 was the top hit in association analyses (p < 5.41 × 10-5 in both the optimal sequence kernel association and mixed effects score tests), with 5 variants identified in 8 SCAD cases. \nSources: Literature","entity_name":"TSR1","entity_type":"gene"},{"created":"2022-03-10T21:07:35.215386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11254","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM151A as ready","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T21:07:35.201458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11254","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem151a has been classified as Green List (High Evidence).","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T21:06:12.111276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11254","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM151A as Green List (high evidence)","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T21:06:12.097253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11254","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem151a has been classified as Green List (High Evidence).","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T21:05:49.719726+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11253","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM151A was added\ngene: TMEM151A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM151A were set to 34820915; 34518509\nPhenotypes for gene: TMEM151A were set to episodic kinesigenic dyskinesia MONDO:0044202\nReview for gene: TMEM151A was set to GREEN\nAdded comment: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families \r\nPMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease. \nSources: Literature","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T21:04:08.835506+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TMEM151A were changed from Paroxysmal Kinesigenic Dyskinesia to Paroxysmal Kinesigenic Dyskinesia; episodic kinesigenic dyskinesia MONDO:0044202","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T20:58:24.676342+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM151A as Green List (high evidence)","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T20:58:24.671939+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: PMID: 34820915 - 24 heterozygous TMEM151A variants detected in 29 PRRT2-negative patients from 25 families\r\nPMID: 34518509 - TMEM151A variants identified in 3 AD families and 8 isolated PKD patients with incomplete penetrance identified in 3 of the isolated cases. Also, supporting mouse model and in vitro functional assays suggesting loss of function as the mechanism of disease.","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T20:58:24.597414+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem151a has been classified as Green List (High Evidence).","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-10T16:08:53.809630+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.24","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ATP6AP2 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP6AP2","entity_type":"gene"},{"created":"2022-03-10T14:42:59.576289+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.98","user_name":"Shekeeb S","item_type":"entity","text":"gene: TMEM151A was added\ngene: TMEM151A was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: TMEM151A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM151A were set to 34820915; 34518509\nPhenotypes for gene: TMEM151A were set to Paroxysmal Kinesigenic Dyskinesia\nReview for gene: TMEM151A was set to GREEN\nAdded comment: Sources: Literature","entity_name":"TMEM151A","entity_type":"gene"},{"created":"2022-03-09T20:01:05.807534+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11252","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT13 as ready","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T20:01:05.794893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11252","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt13 has been classified as Green List (High Evidence).","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T20:00:29.904026+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11252","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT13 were changed from  to White sponge nevus 2, MIM# 615785","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T20:00:10.594416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11251","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT13 were set to ","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T19:59:50.054298+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11250","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T19:59:30.876332+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT13: Rating: GREEN; Mode of pathogenicity: None; Publications: 7493031, 14600690, 32758484, 29476668; Phenotypes: White sponge nevus 2, MIM# 615785; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT13","entity_type":"gene"},{"created":"2022-03-09T19:56:03.768032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT16 as ready","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-03-09T19:56:03.757919+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt16 has been classified as Green List (High Evidence).","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-03-09T19:55:56.017066+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT16 were changed from  to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-03-09T19:55:34.869995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11248","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT16 were set to ","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-03-09T19:55:12.649408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11247","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT16","entity_type":"gene"},{"created":"2022-03-09T19:54:53.455301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11246","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT16: Rating: GREEN; Mode of pathogenicity: None; Publications: 8595410, 10839714; Phenotypes: Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000), Pachyonychia congenita 1 (MIM#167200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT16","entity_type":"gene"}]}