{"count":220833,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1241","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1239","results":[{"created":"2021-08-13T10:47:59.130180+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROGDI were changed from  to Kohlschutter-Tonz syndrome, MIM# 226750","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:47:24.679770+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4050","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROGDI were set to ","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:47:02.519614+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4049","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROGDI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:46:26.822455+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4048","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 33866847; Phenotypes: Kohlschutter-Tonz syndrome, MIM# 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:45:55.266831+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROGDI as ready","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:45:55.256422+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rogdi has been classified as Green List (High Evidence).","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:45:50.335435+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROGDI were changed from  to Kohlschutter-Tonz syndrome, MIM# 226750","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:45:35.518596+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROGDI were set to ","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:44:42.641397+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROGDI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:44:11.500493+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 33866847; Phenotypes: Kohlschutter-Tonz syndrome, MIM# 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:43:29.910216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8796","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROGDI as ready","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:43:29.899268+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8796","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rogdi has been classified as Green List (High Evidence).","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:43:21.566241+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8796","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROGDI were changed from  to Kohlschutter-Tonz syndrome, MIM# 226750","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:43:01.902141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8795","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROGDI were set to ","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:42:43.402344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8794","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROGDI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:42:25.310206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8793","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: None; Publications: 22424600, 23086778, 33866847; Phenotypes: Kohlschutter-Tonz syndrome, MIM# 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:40:27.633228+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROGDI as ready","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:40:27.622447+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rogdi has been classified as Green List (High Evidence).","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:40:24.499505+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROGDI were changed from Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth); Kohlschutter-Tonz syndrome,  226750 to Kohlschutter-Tonz syndrome MIM #226750; Amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)","entity_name":"ROGDI","entity_type":"gene"},{"created":"2021-08-13T10:39:28.534068+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELT as ready","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:39:28.524876+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: relt has been classified as Green List (High Evidence).","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:39:14.814949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8793","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELT as Green List (high evidence)","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:39:14.804815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: relt has been classified as Green List (High Evidence).","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:38:57.861240+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8792","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RELT was added\ngene: RELT was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: RELT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RELT were set to 30506946\nPhenotypes for gene: RELT were set to Amelogenesis imperfecta, type IIIC, MIM# 618386\nReview for gene: RELT was set to GREEN\nAdded comment: Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. At least 3 families and a mouse model. \nSources: Expert Review","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:37:44.075872+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELT as ready","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:37:44.065405+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: relt has been classified as Green List (High Evidence).","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:37:19.437380+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RELT were changed from amelogenesis imperfecta (hypoplastic); Amelogenesis imperfecta, type IIIC, 618386 to Amelogenesis imperfecta, type IIIC, MIM# 618386","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:37:04.820443+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30506946; Phenotypes: Amelogenesis imperfecta, type IIIC, MIM# 618386; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELT","entity_type":"gene"},{"created":"2021-08-13T10:34:43.713339+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX6 as ready","entity_name":"PEX6","entity_type":"gene"},{"created":"2021-08-13T10:34:43.702008+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex6 has been classified as Green List (High Evidence).","entity_name":"PEX6","entity_type":"gene"},{"created":"2021-08-13T10:34:41.361889+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX6 were changed from Peroxisome biogenesis disorder 4A (Zellweger), 614862; Heimler Syndrome 2, 616617 (includes amelogenesis imperfecta); Peroxisome biogenesis disorder 4B, 614863 to Heimler syndrome 2, MIM# 616617","entity_name":"PEX6","entity_type":"gene"},{"created":"2021-08-13T10:34:31.025858+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX6 were set to 26387595; 27302843; 16530715","entity_name":"PEX6","entity_type":"gene"},{"created":"2021-08-13T10:34:07.747681+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387595, 27633571, 27302843; Phenotypes: Heimler syndrome 2, MIM# 616617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX6","entity_type":"gene"},{"created":"2021-08-13T10:33:06.534847+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PEX1: Changed publications: 26387595, 27633571, 27302843","entity_name":"PEX1","entity_type":"gene"},{"created":"2021-08-13T10:32:54.645824+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX1 as ready","entity_name":"PEX1","entity_type":"gene"},{"created":"2021-08-13T10:32:54.635089+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex1 has been classified as Green List (High Evidence).","entity_name":"PEX1","entity_type":"gene"},{"created":"2021-08-13T10:32:21.526260+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX1 were changed from Peroxisome biogenesis disorder 1A (Zellweger), 214100; Heimler Syndrome 1, 234580 (includes amelogenesis imperfecta); Peroxisomal Biogenesis Disorder 1A (NALD / IRD) 601539; hypomineralized amelogenesis imperfecta; amelogenesis imperfecta to Heimler syndrome 1, MIM# 234580","entity_name":"PEX1","entity_type":"gene"},{"created":"2021-08-13T10:32:06.282173+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Heimler syndrome 1, MIM# 234580; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX1","entity_type":"gene"},{"created":"2021-08-13T10:00:22.013477+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ORAI1 as ready","entity_name":"ORAI1","entity_type":"gene"},{"created":"2021-08-13T10:00:21.990171+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: orai1 has been classified as Green List (High Evidence).","entity_name":"ORAI1","entity_type":"gene"},{"created":"2021-08-13T10:00:18.938478+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ORAI1 were changed from Immunodeficiency 9, 612782 to Immunodeficiency 9, MIM# 612782; Hypocalcified amelogenesis imperfecta","entity_name":"ORAI1","entity_type":"gene"},{"created":"2021-08-13T09:59:57.882351+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ORAI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26469693, 16582901, 20004786; Phenotypes: Immunodeficiency 9, MIM# 612782; Mode of inheritance: None","entity_name":"ORAI1","entity_type":"gene"},{"created":"2021-08-13T09:49:27.143007+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MMP20 as ready","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-08-13T09:49:27.127326+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mmp20 has been classified as Green List (High Evidence).","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-08-13T09:49:25.077041+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMP20 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA2, 612529; Amelogenesis imperfecta, type IIA2, 612529; Amelogenesis Imperfecta, Recessive to Amelogenesis imperfecta, type IIA2, MIM# 612529","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-08-13T09:49:09.813810+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MMP20: Rating: GREEN; Mode of pathogenicity: None; Publications: 23625376, 26124219, 28659819, 19966041, 26502894, 28473773, 23355523, 18096894, 16246936, 15744043; Phenotypes: Amelogenesis imperfecta, type IIA2, MIM# 612529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMP20","entity_type":"gene"},{"created":"2021-08-13T09:46:20.903333+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB3 were changed from Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:45:26.818094+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8790","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB3 were set to 11023379; 7706760","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:45:05.728636+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8789","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMB3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:44:48.423437+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8788","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMB3: Changed publications: 11023379, 7706760, 23958762, 7706760, 23632796, 26502894, 27220909, 25769099, 24494736; Changed phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:43:49.055767+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB3 as ready","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:43:49.044678+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb3 has been classified as Green List (High Evidence).","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:43:46.642351+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB3 were changed from Amelogenesis Imperfecta, Type IA, 104530; Epidermolysis bullosa, junctional, Herlitz type, 26700; Amelogenesis imperfecta, type IA, 104530; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 to Amelogenesis imperfecta, type IA, MIM# 104530; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:43:31.260241+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LAMB3: Changed publications: 23958762, 7706760, 23632796, 26502894, 27220909, 25769099, 24494736","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:37:35.712916+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amelogenesis imperfecta, type IA, MIM# 104530, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2021-08-13T09:34:35.122708+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Short-rib skeletal dysplasia to Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:34:13.541715+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0753 were set to 29138412","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:33:39.237029+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Added comment: Additional families reported.; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:32:48.211215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8788","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome 38, MIM# 619476 to Orofaciodigital syndrome XV, MIM# 617127; Joubert syndrome 38, MIM# 619476; Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:32:24.809817+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8787","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0753 were set to 31816441; 28220259; 29138412; 26643951","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:32:01.662462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8786","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Added comment: At least 5 families reported with a skeletal ciliopathy.; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:30:53.384072+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0753 were changed from Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM#\t619476 to Orofaciodigital syndrome XV 617127; Joubert syndrome 38, MIM#\t619476; Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:30:12.533917+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIAA0753 were set to 31816441; 28220259; 29138412; 26643951","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:29:35.881072+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KIAA0753: Added comment: At least 5 families reported with a skeletal ciliopathy.; Changed rating: GREEN; Changed publications: 29138412, 31816441, 33875766, 34016807; Changed phenotypes: Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIAA0753","entity_type":"gene"},{"created":"2021-08-13T09:27:48.817519+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475","entity_name":"SPTBN1","entity_type":"gene"},{"created":"2021-08-13T09:27:02.887359+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475","entity_name":"SPTBN1","entity_type":"gene"},{"created":"2021-08-13T09:26:28.995090+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1165","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Mode of inheritance: None","entity_name":"SPTBN1","entity_type":"gene"},{"created":"2021-08-13T09:26:10.238642+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8786","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTBN1 were changed from Neurodevelopmental Syndrome; Intellectual disability; Seizures to Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Neurodevelopmental Syndrome; Intellectual disability; Seizures","entity_name":"SPTBN1","entity_type":"gene"},{"created":"2021-08-13T09:25:45.393597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8785","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPTBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental delay, impaired speech, and behavioural abnormalities, MIM# 619475; Mode of inheritance: None","entity_name":"SPTBN1","entity_type":"gene"},{"created":"2021-08-13T09:24:44.225195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8785","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for STR: NIID were changed from Neuronal intranuclear inclusion disease\tMIM#603472; Tremor, hereditary essential, 6\tMIM#618866 to Neuronal intranuclear inclusion disease\tMIM#603472; Tremor, hereditary essential, 6\tMIM#618866; Oculopharyngodistal myopathy 3, MIM# 619473","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-13T09:24:17.558863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8784","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed STR: NIID: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 3, MIM# 619473; Mode of inheritance: None","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-13T09:21:46.400823+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for STR: NIID were changed from Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866 to Neuronal intranuclear inclusion disease MIM#603472; Tremor, hereditary essential, 6 MIM#618866; Oculopharyngodistal myopathy 3, MIM# 619473","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-13T09:21:03.618074+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed STR: NIID: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 3, MIM#\t619473; Mode of inheritance: None","entity_name":"NIID","entity_type":"str"},{"created":"2021-08-12T20:36:35.719067+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA3 as ready","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-08-12T20:36:35.709288+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama3 has been classified as Green List (High Evidence).","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-08-12T20:36:26.694564+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMA3 were changed from Laryngoonychocutaneous syndrome 245660; Epidermolysis bullosa, junctional, Herlitz type 226700; Epidermolysis bullosa, generalized atrophic benign 226650; Amelogenesis imperfecta, hypoplastic type to Epidermolysis bullosa, generalized atrophic benign, MIM# 226650; Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700; Laryngoonychocutaneous syndrome, MIM# 245660","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-08-12T20:35:56.985777+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMA3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-08-12T20:35:33.337412+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, generalized atrophic benign, MIM# 226650, Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700, Laryngoonychocutaneous syndrome, MIM# 245660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA3","entity_type":"gene"},{"created":"2021-08-12T20:20:18.826457+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLK4 as ready","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:20:18.808610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk4 has been classified as Green List (High Evidence).","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:20:00.461806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLK4 were changed from  to Amelogenesis imperfecta, type IIA1, MIM# 204700","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:19:42.887012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLK4 were set to ","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:19:25.233793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KLK4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:19:04.513540+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8781","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15235027, 23355523, 28611678, 27066511; Phenotypes: Amelogenesis imperfecta, type IIA1, MIM# 204700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:18:09.130144+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT3 as ready","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-08-12T20:18:09.117361+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat3 has been classified as Green List (High Evidence).","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-08-12T20:18:06.516957+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT3 were changed from  to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Lymphoproliferation; solid organ autoimmunity; recurrent infections; short stature; eczema; delayed puberty; dental abnormalities; autoimmune interstitial lung disease; juvenile-onset arthritis; primary hypothyroidism","entity_name":"STAT3","entity_type":"gene"},{"created":"2021-08-12T20:17:38.937281+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLK4 as ready","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:17:38.925566+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klk4 has been classified as Green List (High Evidence).","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:17:36.399176+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLK4 were changed from Amelogenesis Imperfecta, Hypomaturation Type, IIA1, 204700; Amelogenesis imperfecta, type IIA1, 204700 to Amelogenesis imperfecta, type IIA1, MIM# 204700","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:17:26.921440+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLK4 were set to 15235027; 23355523; 26124219; 28611678","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T20:17:06.719421+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 15235027, 23355523, 28611678, 27066511; Phenotypes: Amelogenesis imperfecta, type IIA1, MIM# 204700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLK4","entity_type":"gene"},{"created":"2021-08-12T18:33:22.860101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB6 as ready","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:33:22.849534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb6 has been classified as Green List (High Evidence).","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:33:14.095255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8781","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGB6 as Green List (high evidence)","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:33:14.084845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb6 has been classified as Green List (High Evidence).","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:32:58.265937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8780","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB6 was added\ngene: ITGB6 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ITGB6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098\nPhenotypes for gene: ITGB6 were set to Amelogenesis imperfecta, type IH, MIM# 616221\nReview for gene: ITGB6 was set to GREEN\nAdded comment: At least 3 unrelated families reported. \nSources: Expert Review","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:32:31.440559+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGB6 were set to 25431241; 26695873; 24305999; 24319098","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:31:39.683895+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB6 as ready","entity_name":"ITGB6","entity_type":"gene"},{"created":"2021-08-12T18:31:39.670266+10:00","panel_name":"Amelogenesis imperfecta","panel_id":3564,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb6 has been classified as Green List (High Evidence).","entity_name":"ITGB6","entity_type":"gene"}]}