{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1318","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1316","results":[{"created":"2021-05-28T17:32:38.449065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7688","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADNP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T17:32:20.577863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7687","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: 24531329, 25057125, 25533962, 29724491; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873, MONDO:0014379; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T15:21:50.826814+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7687","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ADNP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29911927; Phenotypes: Helsmoortel-van der Aa syndrome MIM#615873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ADNP","entity_type":"gene"},{"created":"2021-05-28T10:24:41.017334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7687","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHUK as ready","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:24:41.002789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7687","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chuk has been classified as Amber List (Moderate Evidence).","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:24:32.007837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHUK were changed from  to Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339; Cocoon syndrome, MIM# 613630; AEC-like syndrome","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:24:06.152681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7686","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHUK were set to ","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:23:45.645481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7685","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHUK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:23:25.540696+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7684","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHUK as Amber List (moderate evidence)","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:23:25.528509+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7684","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chuk has been classified as Amber List (Moderate Evidence).","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-28T10:23:08.953256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7683","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHUK: Rating: AMBER; Mode of pathogenicity: None; Publications: 25691407, 20961246, 10195895, 10195896, 29523099, 28513979; Phenotypes: Popliteal pterygium syndrome, Bartsocas-Papas type 2, MIM# 619339, Cocoon syndrome, MIM# 613630, AEC-like syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CHUK","entity_type":"gene"},{"created":"2021-05-27T19:09:52.335783+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: DES.","entity_name":"DES","entity_type":"gene"},{"created":"2021-05-27T19:08:44.803981+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy","entity_name":"PLN","entity_type":"gene"},{"created":"2021-05-27T19:08:17.895160+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLN were set to 22820313","entity_name":"PLN","entity_type":"gene"},{"created":"2021-05-27T19:07:02.777486+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986; 29980933","entity_name":"TMEM43","entity_type":"gene"},{"created":"2021-05-27T19:06:32.636331+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: TMEM43.","entity_name":"TMEM43","entity_type":"gene"},{"created":"2021-05-27T19:05:35.102280+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JUP were set to 16722579; 17924338","entity_name":"JUP","entity_type":"gene"},{"created":"2021-05-27T19:04:04.421341+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSC2 were set to 17963498; 21062920; 23863954; 17186466; 18957847; 17033975; 28339476","entity_name":"DSC2","entity_type":"gene"},{"created":"2021-05-27T19:03:36.836891+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"DSC2","entity_type":"gene"},{"created":"2021-05-27T15:40:13.012875+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG2 were set to ","entity_name":"DSG2","entity_type":"gene"},{"created":"2021-05-27T15:39:52.164772+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.51","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC; Mode of inheritance: None; Current diagnostic: yes","entity_name":"DES","entity_type":"gene"},{"created":"2021-05-27T15:39:23.190463+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:38:52.620072+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:38:09.915460+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:37:41.073200+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DSP: Added comment: Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.; Changed publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500, 31073624, 30345701, 11063735; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:35:49.720630+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.48","user_name":"Ivan Macciocca","item_type":"entity","text":"edited their review of gene: PLN: Added comment: MODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308).  Common Dutch founder mutation PLN Arg14del.; Changed publications: ARVC","entity_name":"PLN","entity_type":"gene"},{"created":"2021-05-27T15:31:24.050771+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PKP2 were set to ","entity_name":"PKP2","entity_type":"gene"},{"created":"2021-05-27T15:26:06.523945+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"edited their review of gene: TMEM43: Set current diagnostic: yes","entity_name":"TMEM43","entity_type":"gene"},{"created":"2021-05-27T15:25:57.649862+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: TMEM43: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None","entity_name":"TMEM43","entity_type":"gene"},{"created":"2021-05-27T15:21:29.545440+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: JUP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC, Naxos disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JUP","entity_type":"gene"},{"created":"2021-05-27T15:18:50.213900+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"edited their review of gene: DSP: Changed phenotypes: ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:17:00.820344+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DSC2","entity_type":"gene"},{"created":"2021-05-27T15:15:18.277206+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None","entity_name":"DSG2","entity_type":"gene"},{"created":"2021-05-27T15:14:03.658820+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DSP","entity_type":"gene"},{"created":"2021-05-27T15:10:26.011080+10:00","panel_name":"Arrhythmogenic Cardiomyopathy","panel_id":48,"panel_version":"0.47","user_name":"Ivan Macciocca","item_type":"entity","text":"reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PKP2","entity_type":"gene"},{"created":"2021-05-27T10:24:13.960551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7683","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-05-27T10:23:52.633337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7682","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-05-27T10:23:39.606966+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM251 were changed from Dysostosis multiplex‐like skeletal dysplasia; severe short stature to Dysostosis multiplex, Ain-Naz type 619345","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-05-27T10:23:06.882734+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM251: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysostosis multiplex, Ain-Naz type 619345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM251","entity_type":"gene"},{"created":"2021-05-27T10:14:34.154709+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7682","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PARP6 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:14:16.211443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7681","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PARP6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:05:39.572326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7681","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARP6 as ready","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:05:39.552003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:05:30.477385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7681","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARP6 as Green List (high evidence)","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:05:30.462839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:05:11.637503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7680","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARP6 was added\ngene: PARP6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PARP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:04:52.581605+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARP6 as ready","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:04:52.571800+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:04:26.668360+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARP6 as Green List (high evidence)","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:04:26.658131+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:00:26.799196+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARP6 as Green List (high evidence)","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T10:00:26.788297+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:59:41.855075+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARP6 was added\ngene: PARP6 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:58:52.240670+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARP6 as ready","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:58:52.208659+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:58:46.369207+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARP6 as Green List (high evidence)","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:58:46.360700+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1087","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:58:12.347433+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1086","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARP6 was added\ngene: PARP6 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:57:38.742951+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PARP6 as ready","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:57:38.730842+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:57:10.048002+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PARP6 as Green List (high evidence)","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:57:10.037516+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: parp6 has been classified as Green List (High Evidence).","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T09:56:17.614635+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3787","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARP6 was added\ngene: PARP6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PARP6 were set to Cells 2021, 10(6), 1289; https://doi.org/10.3390/cells10061289\nPhenotypes for gene: PARP6 were set to Intellectual disability; Epilepsy; Microcephaly\nReview for gene: PARP6 was set to GREEN\nAdded comment: Four unrelated individuals reported with de novo variants in this gene and a neurodevelopmental phenotype. Supportive functional data. One pair of siblings with a homozygous missense: limited evidence for bi-allelic variants causing disease. \nSources: Literature","entity_name":"PARP6","entity_type":"gene"},{"created":"2021-05-27T07:41:51.568394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7679","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKBP1 as ready","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:41:51.558817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7679","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkbp1 has been classified as Green List (High Evidence).","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:41:41.242301+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7679","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKBP1 were changed from  to Nephronophthisis 20, MIM# 617271; MONDO:0014997","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:41:21.703135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7678","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKBP1 were set to ","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:41:01.089785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7677","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:40:43.866222+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7676","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:40:08.567268+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKBP1 as ready","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:40:08.551750+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkbp1 has been classified as Green List (High Evidence).","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:40:05.440118+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKBP1 were changed from  to Nephronophthisis 20, MIM# 617271; MONDO:0014997","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:39:41.279178+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKBP1 were set to ","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:39:17.116924+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:38:52.304658+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:37:48.766709+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAPKBP1 as ready","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:37:48.755632+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mapkbp1 has been classified as Green List (High Evidence).","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:37:46.486667+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAPKBP1 were changed from  to Nephronophthisis 20, MIM# 617271; MONDO:0014997","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:37:10.988633+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MAPKBP1 were set to ","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:36:44.629062+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAPKBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-27T07:36:13.283997+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251, 33623699, 32505465, 32055034; Phenotypes: Nephronophthisis 20, MIM# 617271, MONDO:0014997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2021-05-26T18:30:48.785940+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPE65 as ready","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-05-26T18:30:48.776582+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpe65 has been classified as Green List (High Evidence).","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-05-26T18:30:44.959351+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPE65 as Green List (high evidence)","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-05-26T18:30:44.946209+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpe65 has been classified as Green List (High Evidence).","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-05-26T18:30:36.632342+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPE65 was added\ngene: RPE65 was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: RPE65 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RPE65 were set to 34012068\nPhenotypes for gene: RPE65 were set to RPE-related retinopathy\nReview for gene: RPE65 was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, available gene therapy may be more effective earlier in disease. \nSources: Expert list","entity_name":"RPE65","entity_type":"gene"},{"created":"2021-05-26T18:28:55.969941+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1A as ready","entity_name":"HNF1A","entity_type":"gene"},{"created":"2021-05-26T18:28:55.958808+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1a has been classified as Green List (High Evidence).","entity_name":"HNF1A","entity_type":"gene"},{"created":"2021-05-26T18:28:51.694836+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HNF1A as Green List (high evidence)","entity_name":"HNF1A","entity_type":"gene"},{"created":"2021-05-26T18:28:51.686508+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1a has been classified as Green List (High Evidence).","entity_name":"HNF1A","entity_type":"gene"},{"created":"2021-05-26T18:28:43.672294+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HNF1A was added\ngene: HNF1A was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF1A were set to 34012068\nPhenotypes for gene: HNF1A were set to MODY, type III\t, MIM#600496\nReview for gene: HNF1A was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, accounts for 30-50% of known MODY cases likely to respond to high dose sulfonylureas; early treatment may prevent complications. \nSources: Expert list","entity_name":"HNF1A","entity_type":"gene"},{"created":"2021-05-26T18:26:42.317311+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ENG as ready","entity_name":"ENG","entity_type":"gene"},{"created":"2021-05-26T18:26:42.306505+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2021-05-26T18:26:35.070829+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ENG as Green List (high evidence)","entity_name":"ENG","entity_type":"gene"},{"created":"2021-05-26T18:26:35.060575+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eng has been classified as Green List (High Evidence).","entity_name":"ENG","entity_type":"gene"},{"created":"2021-05-26T18:26:19.184320+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Additional findings_Adult. Sources: Expert list\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENG were set to 34012068\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM#\t187300\nReview for gene: ENG was set to GREEN\nAdded comment: Included in ACMG V3.0 SF list, potential morbidity meets penetrance threshold and has effective intervention. \nSources: Expert list","entity_name":"ENG","entity_type":"gene"},{"created":"2021-05-26T18:24:57.443322+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVRL1 as ready","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2021-05-26T18:24:57.433628+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2021-05-26T18:24:46.371103+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVRL1 as Green List (high evidence)","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2021-05-26T18:24:46.361633+10:00","panel_name":"Additional findings_Adult","panel_id":221,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvrl1 has been classified as Green List (High Evidence).","entity_name":"ACVRL1","entity_type":"gene"}]}