{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=851","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=849","results":[{"created":"2022-05-09T08:14:51.729998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13920","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cyp2c19 has been classified as Red List (Low Evidence).","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-09T08:14:33.210783+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13919","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: CYP2C19: Changed rating: RED","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-09T08:14:25.501436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13919","user_name":"Ain Roesley","item_type":"entity","text":"changed review comment from: Voriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)\r\n\r\n(PMID:27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\" \r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"; to: Pharmacogenomics gene\r\n\r\nVoriconazole: Improved time to target concentration with genotype directed dosing (PMID 26616742), reduced underexposure (PMID: 31549389) (PMID 31549386)\r\n\r\n(PMID:27981572)\r\nVoriconazole, moderate strength.\r\nPoor metabolizer: \"Higher dose-adjusted trough concentrations of voriconazole and\r\nmay increase probability of adverse events.\" \r\nUltrarapid metabolizer: \"probability of attainment of therapeutic voriconazole concentrations is small with standard dosing.\"","entity_name":"CYP2C19","entity_type":"gene"},{"created":"2022-05-07T18:31:58.546177+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13919","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGUOK as ready","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:31:58.534649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Green List (High Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:31:48.744059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGUOK were changed from  to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:31:22.022962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13918","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGUOK were set to ","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:30:52.366972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13917","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:30:24.143687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13916","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DGUOK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687800, 12874104, 15887277, 23043144, 26874653; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880, Portal hypertension, noncirrhotic, 1, MIM# 617068, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGUOK","entity_type":"gene"},{"created":"2022-05-07T18:23:49.237449+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGKE as ready","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:23:49.224622+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgke has been classified as Green List (High Evidence).","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:23:46.027814+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGKE were changed from  to Nephrotic syndrome, type 7, MIM# 615008","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:23:14.693202+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGKE were set to ","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:22:42.565015+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:22:06.958638+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:21:27.639278+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13916","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGKE as ready","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:21:27.628725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13916","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dgke has been classified as Green List (High Evidence).","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:21:10.470869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13916","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGKE were changed from  to Nephrotic syndrome, type 7, MIM# 615008","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:20:48.342575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13915","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DGKE were set to ","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:15:11.251324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13914","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DGKE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:14:43.748675+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13913","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DGKE: Rating: GREEN; Mode of pathogenicity: None; Publications: 23274426, 23542698; Phenotypes: Nephrotic syndrome, type 7, MIM# 615008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGKE","entity_type":"gene"},{"created":"2022-05-07T18:12:31.064051+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13913","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DES as ready","entity_name":"DES","entity_type":"gene"},{"created":"2022-05-07T18:12:31.041046+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13913","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: des has been classified as Green List (High Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2022-05-07T18:09:04.266633+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13913","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DES were changed from  to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy","entity_name":"DES","entity_type":"gene"},{"created":"2022-05-07T18:08:40.874616+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13912","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DES were set to ","entity_name":"DES","entity_type":"gene"},{"created":"2022-05-07T18:08:02.092218+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13911","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 20718792, 19879535, 20423733, 24200904, 22395865, 29212896, 23168288, 20829228, 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, Myopathy, myofibrillar, 1 , MIM#601419, Arrhythmogenic right ventricular cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DES","entity_type":"gene"},{"created":"2022-05-06T18:32:41.710355+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4762","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEPDC5 as ready","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:32:41.698451+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:32:29.503179+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4762","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from  to Epilepsy, familial focal, with variable foci 1, MIM#604364","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:31:57.743226+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4761","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEPDC5 were set to ","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:31:24.209005+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4760","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:30:49.040459+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4759","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1, MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:30:06.342835+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEPDC5 as ready","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:30:06.331932+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:30:03.453852+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from  to Epilepsy, familial focal, with variable foci 1 MIM#604364","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:29:26.379891+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1594","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEPDC5 were set to ","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:28:47.959348+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1593","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:27:57.683902+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1592","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:27:05.682432+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEPDC5 as ready","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:27:05.671350+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:26:57.201521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13911","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from  to Epilepsy, familial focal, with variable foci 1, MIM#604364","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:26:29.152672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13910","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEPDC5 were set to ","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:26:08.538226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13909","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:24:53.399215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13908","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444548, 23542697, 23542701; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2022-05-06T18:22:00.233360+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13908","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DECR1 as ready","entity_name":"DECR1","entity_type":"gene"},{"created":"2022-05-06T18:22:00.220702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: decr1 has been classified as Red List (Low Evidence).","entity_name":"DECR1","entity_type":"gene"},{"created":"2022-05-06T18:21:51.304025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13908","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DECR1 as Red List (low evidence)","entity_name":"DECR1","entity_type":"gene"},{"created":"2022-05-06T18:21:51.292884+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13908","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: decr1 has been classified as Red List (Low Evidence).","entity_name":"DECR1","entity_type":"gene"},{"created":"2022-05-06T18:21:29.503355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13907","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DECR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DECR1","entity_type":"gene"},{"created":"2022-05-06T18:19:40.993151+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13907","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDIT3 as ready","entity_name":"DDIT3","entity_type":"gene"},{"created":"2022-05-06T18:19:40.982385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddit3 has been classified as Red List (Low Evidence).","entity_name":"DDIT3","entity_type":"gene"},{"created":"2022-05-06T18:19:28.884789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13907","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDIT3 as Red List (low evidence)","entity_name":"DDIT3","entity_type":"gene"},{"created":"2022-05-06T18:19:28.874682+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13907","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddit3 has been classified as Red List (Low Evidence).","entity_name":"DDIT3","entity_type":"gene"},{"created":"2022-05-06T18:19:06.751088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13906","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DDIT3","entity_type":"gene"},{"created":"2022-05-06T18:12:36.158964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13906","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDHD2 as ready","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:12:36.141465+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13906","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddhd2 has been classified as Green List (High Evidence).","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:12:20.177392+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13906","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDHD2 were changed from  to Spastic paraplegia 54, autosomal recessive, MIM# 615033","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:09:29.813342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13905","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDHD2 were set to ","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:09:07.997264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13904","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDHD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:08:47.993541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13903","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23486545, 24482476, 23176823, 31302745; Phenotypes: Spastic paraplegia 54, autosomal recessive, MIM# 615033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDHD2","entity_type":"gene"},{"created":"2022-05-06T18:07:08.487766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13903","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDC as ready","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:07:08.476391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13903","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddc has been classified as Green List (High Evidence).","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:06:58.878714+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13903","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDC were changed from  to Aromatic L-amino acid decarboxylase deficiency, MIM# 608643","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:06:37.187047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13902","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDC were set to ","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:06:15.183190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13901","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:05:48.764653+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13900","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134, 30952622; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2022-05-06T18:03:09.840154+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13900","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDB2 as ready","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T18:03:09.827731+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13900","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddb2 has been classified as Green List (High Evidence).","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T18:03:01.299359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13900","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDB2 were changed from  to Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T18:02:31.186164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13899","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDB2 were set to ","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T17:49:49.808139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13898","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AQP3 were set to ","entity_name":"AQP3","entity_type":"gene"},{"created":"2022-05-06T17:49:38.212438+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13897","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AQP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AQP3","entity_type":"gene"},{"created":"2022-05-06T17:49:33.081575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13897","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: AQP3 as Amber List (moderate evidence)","entity_name":"AQP3","entity_type":"gene"},{"created":"2022-05-06T17:49:33.055365+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13897","user_name":"Elena Savva","item_type":"entity","text":"Gene: aqp3 has been classified as Amber List (Moderate Evidence).","entity_name":"AQP3","entity_type":"gene"},{"created":"2022-05-06T17:47:14.478158+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13896","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AQP3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10737773, 12239222; Phenotypes: [Blood group GIL] MIM#607457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AQP3","entity_type":"gene"},{"created":"2022-05-06T17:45:29.717696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13896","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T17:45:10.619983+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13895","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33276309, 32530099, 32239545, 32228487; Phenotypes: Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDB2","entity_type":"gene"},{"created":"2022-05-06T17:42:58.326430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13895","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCTN1 as ready","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:42:58.315388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13895","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dctn1 has been classified as Green List (High Evidence).","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:42:50.169660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13895","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCTN1 were changed from  to Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641; MONDO:0011879; Perry syndrome, MIM# 168605","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:42:29.938433+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13894","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCTN1 were set to ","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:42:02.735762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13893","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:41:42.106582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13892","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DCTN1: Changed phenotypes: Neuronopathy, distal hereditary motor, type VIIB, MIM# 607641, MONDO:0011879, Perry syndrome, MIM# 168605","entity_name":"DCTN1","entity_type":"gene"},{"created":"2022-05-06T17:38:39.296706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13892","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AQP5 were set to PMID: 35014096; 23830519","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:38:35.653176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13892","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AQP5 were changed from Palmoplantar keratoderma, Bothnian type MIM#600231 to Palmoplantar keratoderma, Bothnian type MIM#600231","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:35:24.206358+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13891","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AQP5 were set to ","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:35:17.134674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13892","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AQP5 were changed from  to Palmoplantar keratoderma, Bothnian type MIM#600231","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:35:12.975323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13891","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: AQP5 as ready","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:35:12.963810+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13891","user_name":"Elena Savva","item_type":"entity","text":"Gene: aqp5 has been classified as Green List (High Evidence).","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:35:08.522596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13891","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AQP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:32:34.711324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13890","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AQP5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35014096, 23830519; Phenotypes: Palmoplantar keratoderma, Bothnian type MIM#600231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"AQP5","entity_type":"gene"},{"created":"2022-05-06T17:22:45.855787+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13890","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: AR were changed from  to Hypospadias 1, X-linked MIM#30063; Androgen insensitivity MIM#300068; Androgen insensitivity, partial, with or without breast cancer MIM#312300; Spinal and bulbar muscular atrophy of Kennedy MIM#313200","entity_name":"AR","entity_type":"gene"},{"created":"2022-05-06T17:22:41.556617+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13890","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: AR were set to ","entity_name":"AR","entity_type":"gene"},{"created":"2022-05-06T17:22:20.827491+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13889","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: AR was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AR","entity_type":"gene"},{"created":"2022-05-06T17:20:33.664262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13888","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22334387; Phenotypes: Hypospadias 1, X-linked MIM#30063, Androgen insensitivity MIM#300068, Androgen insensitivity, partial, with or without breast cancer MIM#312300, Spinal and bulbar muscular atrophy of Kennedy MIM#313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AR","entity_type":"gene"},{"created":"2022-05-06T17:10:51.113435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCLRE1C as ready","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-05-06T17:10:51.100623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dclre1c has been classified as Green List (High Evidence).","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-05-06T17:10:42.891283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCLRE1C were changed from  to Severe combined immunodeficiency, Athabascan type MIM# 602450; Omenn syndrome, MIM# 603554","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-05-06T17:10:21.154374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13887","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DCLRE1C were set to ","entity_name":"DCLRE1C","entity_type":"gene"},{"created":"2022-05-06T17:09:54.897059+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.13886","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DCLRE1C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DCLRE1C","entity_type":"gene"}]}