{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1131","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1129","results":[{"created":"2021-11-14T18:18:13.254153+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9720","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TPCN2 as ready","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:18:13.243194+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9720","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpcn2 has been classified as Red List (Low Evidence).","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:18:05.546622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9720","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TPCN2 were changed from  to [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:17:46.780244+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9719","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TPCN2 were set to ","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:17:29.074918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9718","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TPCN2 as Red List (low evidence)","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:17:29.064775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9718","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tpcn2 has been classified as Red List (Low Evidence).","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-14T18:16:55.177583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9717","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO9B as ready","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:16:55.167800+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9717","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9b has been classified as Red List (Low Evidence).","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:16:48.366867+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9717","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO9B were changed from  to {Celiac disease, susceptibility to, 4} MIM#609753","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:16:31.779844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9716","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO9B were set to ","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:16:14.054129+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9715","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO9B as Red List (low evidence)","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:16:14.045221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9715","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo9b has been classified as Red List (Low Evidence).","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-14T18:15:23.378785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9714","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HKDC1 as ready","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-14T18:15:23.369253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9714","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hkdc1 has been classified as Red List (Low Evidence).","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-14T18:14:31.926713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9714","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HKDC1 was added\ngene: HKDC1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HKDC1 were set to 30085091\nPhenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM# 619614\nReview for gene: HKDC1 was set to RED\nAdded comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant. \nSources: Expert Review","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-14T18:13:15.210501+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HKDC1 as ready","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-14T18:13:15.199967+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hkdc1 has been classified as Red List (Low Evidence).","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-14T18:13:08.615977+11:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HKDC1 was added\ngene: HKDC1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert list\nMode of inheritance for gene: HKDC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HKDC1 were set to 30085091\nPhenotypes for gene: HKDC1 were set to Retinitis pigmentosa 92, MIM#\t619614\nReview for gene: HKDC1 was set to RED\nAdded comment: Two unrelated Chinese men reported with relatively late-onset RP, and same homozygous missense variant. \nSources: Expert list","entity_name":"HKDC1","entity_type":"gene"},{"created":"2021-11-13T16:27:21.894833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: BSG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, OK] MIM#111380; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"BSG","entity_type":"gene"},{"created":"2021-11-13T16:20:41.586345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: TPCN2: Rating: RED; Mode of pathogenicity: None; Publications: 20197744, 26918892; Phenotypes: [Skin/hair/eye pigmentation 10, blond/brown hair] MIM#612267; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"TPCN2","entity_type":"gene"},{"created":"2021-11-13T15:37:39.961899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: MYO9B: Rating: RED; Mode of pathogenicity: None; Publications: 16720215, 16423886, 16282976; Phenotypes: {Celiac disease, susceptibility to, 4} MIM#609753; Mode of inheritance: Unknown; Current diagnostic: yes","entity_name":"MYO9B","entity_type":"gene"},{"created":"2021-11-13T12:22:08.665841+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP290: Changed phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:21:21.438437+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4272","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP290 as ready","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:21:21.423703+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4272","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep290 has been classified as Green List (High Evidence).","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:21:17.651267+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP290 were changed from  to Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134; Bardet-Biedl syndrome 14, MIM# 615991","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:20:51.397741+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4271","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP290 were set to ","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:20:16.811628+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4270","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:19:48.155670+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4269","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: None; Publications: 16682973, 16682970, 17705300, 33370260, 32600475; Phenotypes: Joubert syndrome 5, MIM# 610188, Meckel syndrome 4, MIM# 611134, Bardet-Biedl syndrome 14, MIM# 615991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:18:39.378761+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP290 as ready","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:18:39.367923+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep290 has been classified as Red List (Low Evidence).","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:18:35.912517+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.388","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP290 were changed from  to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:18:06.690640+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.387","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP290 were set to ","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:17:42.978891+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.386","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP290 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:17:17.930227+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP290 as Red List (low evidence)","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:17:17.913971+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.385","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep290 has been classified as Red List (Low Evidence).","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:16:45.161163+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.384","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP290: Rating: RED; Mode of pathogenicity: None; Publications: 18327255, 20690115, 16682973, 16682970, 17564967, 16909394, 17564974; Phenotypes: Bardet-Biedl syndrome 14, MIM# 615991, Joubert syndrome 5 610188, Leber congenital amaurosis 10, MIM# 611755, Meckel syndrome 4, MIM# 611134, Senior-Loken syndrome 6, MIM# 610189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:11:57.339981+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS, Meckel syndrome and BBS which all have congenital abnormalities as a feature.","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:11:29.022796+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP290 as ready","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:11:29.012235+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep290 has been classified as Green List (High Evidence).","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:11:24.587408+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP290 were changed from LEBER CONGENITAL AMAUROSIS TYPE 10; BARDET-BIEDL SYNDROME TYPE 14; JOUBERT SYNDROME TYPE 5; SENIOR-LOKEN SYNDROME TYPE 6; MECKEL SYNDROME TYPE 4 to Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5, MIM# 610188; Meckel syndrome 4, MIM# 611134","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:11:03.422840+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP290 were set to 16682973; 16682970; 17705300; 33370260; 32600475","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:10:33.111014+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP290 were set to ","entity_name":"CEP290","entity_type":"gene"},{"created":"2021-11-13T12:10:06.643122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP164 as ready","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-11-13T12:10:06.633997+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-11-13T12:09:28.592969+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP164 were changed from Nephronophthisis 15 614845 to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-11-13T12:09:16.587944+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.422","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP164 were set to ","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-11-13T12:07:07.707561+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP152 as ready","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-11-13T12:07:07.694893+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep152 has been classified as Green List (High Evidence).","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-11-13T12:06:30.322487+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP152 were changed from SECKEL SYNDROME TYPE 5; MICROCEPHALY PRIMARY TYPE 4 to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-11-13T12:06:19.416755+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP152 were set to ","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-11-13T12:06:07.110511+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. ID is a feature of both disorders. Gene encodes centriole protein.; to: Bi-allelic variants in this gene have been reported in both primary microcephaly (-5-7 SD) and in Seckel syndrome, at least 3 of each. Gene encodes centriole protein.","entity_name":"CEP152","entity_type":"gene"},{"created":"2021-11-13T12:05:35.575785+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:05:35.556613+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:05:32.962915+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from  to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:05:03.338991+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to ","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:04:35.625601+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:03:27.936195+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:03:27.926953+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:03:19.024639+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:03:07.356491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.418","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to PMID: 2720821; 25361962","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:02:42.556332+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:02:37.361551+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP120: Added comment: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data.; Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-11-13T12:01:26.378459+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list; to: Three unrelated individuals reported, structural brain abnormalities are part of the phenotype. \r\nSources: Expert list","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-11-13T12:01:07.712521+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-11-13T12:01:07.702737+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-11-13T12:01:03.389410+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-11-13T12:00:51.840812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP104 were set to ","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-11-13T12:00:07.662629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4269","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPJ as ready","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T12:00:07.649709+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Green List (High Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T12:00:02.853376+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPJ were changed from  to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:59:27.146921+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4268","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to ","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:59:00.644833+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4267","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:58:25.603457+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4266","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:57:58.492442+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPJ as ready","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:57:58.480369+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Green List (High Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:57:37.287211+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPJ as ready","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:57:37.276194+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Red List (Low Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:57:32.808308+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPJ were changed from  to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:56:51.224952+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to ","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:56:21.572348+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:55:47.433148+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CENPJ as Red List (low evidence)","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:55:47.422392+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Red List (Low Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:55:23.126818+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:55:09.259027+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9713","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPJ were changed from  to Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029; Seckel syndrome 4, MIM# 613676, MONDO:0013358","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:54:50.438748+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9712","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to ","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:53:20.216665+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9711","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CENPJ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:52:29.282250+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9710","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, MONDO:0012029, Seckel syndrome 4, MIM# 613676, MONDO:0013358; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:51:33.147037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CENPJ as ready","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:51:33.134048+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cenpj has been classified as Green List (High Evidence).","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:51:29.493101+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CENPJ were changed from SECKEL SYNDROME TYPE 4; MICROCEPHALY PRIMARY TYPE 6 to Microcephaly 6, primary, autosomal recessive, MIM# 608393; Seckel syndrome 4, MIM# 613676","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:51:16.941530+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CENPJ were set to ","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-13T11:50:59.995606+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CENPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 20522431, 23166506, 15793586, 20978018, 22775483, 32677750, 32549991; Phenotypes: Microcephaly 6, primary, autosomal recessive, MIM# 608393, Seckel syndrome 4, MIM# 613676; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2021-11-12T18:58:38.304300+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDT1 as ready","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T18:58:38.292074+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdt1 has been classified as Green List (High Evidence).","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T18:58:15.969017+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, MIM#613804","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T18:58:00.625791+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: IUGR.; to: IUGR is a presenting feature.","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T18:57:51.643689+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Intellect is typically normal.; to: IUGR.","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T18:57:12.388802+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CDT1: Changed rating: GREEN","entity_name":"CDT1","entity_type":"gene"},{"created":"2021-11-12T10:10:45.906904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9710","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDON as ready","entity_name":"CDON","entity_type":"gene"},{"created":"2021-11-12T10:10:45.895785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9710","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdon has been classified as Green List (High Evidence).","entity_name":"CDON","entity_type":"gene"}]}