{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1158","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1156","results":[{"created":"2021-10-25T18:01:01.106888+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRAT as ready","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:01:01.096692+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrat has been classified as Amber List (Moderate Evidence).","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:58.218504+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRAT were changed from  to Leber congenital amaurosis 14, MIM#613341","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:50.596643+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRAT were set to ","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:23.489457+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRAT was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:17.687868+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRAT as Amber List (moderate evidence)","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:17.670383+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrat has been classified as Amber List (Moderate Evidence).","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T18:00:09.095613+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber congenital amaurosis 14, MIM#613341; Mode of inheritance: None","entity_name":"LRAT","entity_type":"gene"},{"created":"2021-10-25T17:55:44.832891+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRIT3 as ready","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:55:44.820270+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrit3 has been classified as Green List (High Evidence).","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:55:42.279521+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRIT3 were set to ","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:55:17.830289+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:54:55.464838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRIT3 as ready","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:54:55.452950+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrit3 has been classified as Green List (High Evidence).","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:54:47.354051+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9473","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRIT3 were changed from  to Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:54:28.799303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9472","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRIT3 were set to ","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:54:10.792180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9471","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRIT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:53:42.425979+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9470","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23246293, 24598786, 31578364, 27428514; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive, MIM# 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:50:25.893684+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:LRIT3 from the panel","entity_name":null,"entity_type":null},{"created":"2021-10-25T17:49:10.529394+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRIT3 as ready","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:49:10.506669+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrit3 has been classified as Red List (Low Evidence).","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:49:05.778747+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRIT3 were set to ","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:49:02.527963+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.131","user_name":"Krithika Murali","item_type":"entity","text":"gene: BCL9L was added\ngene: BCL9L was added to Congenital Heart Defect. Sources: Expert list,Literature,Other\nMode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCL9L were set to 23035047; 8757136\nPhenotypes for gene: BCL9L were set to Congenital Heart Disease; Heterotaxy\nReview for gene: BCL9L was set to AMBER\nAdded comment: Novel gene disease association. Saunders et al. 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136) \nSources: Expert list, Literature, Other","entity_name":"BCL9L","entity_type":"gene"},{"created":"2021-10-25T17:48:57.134118+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRIT3 as Red List (low evidence)","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:48:57.124595+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrit3 has been classified as Red List (Low Evidence).","entity_name":"LRIT3","entity_type":"gene"},{"created":"2021-10-25T17:47:42.878801+11:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"1.8","user_name":"Krithika Murali","item_type":"entity","text":"gene: BCL9L was added\ngene: BCL9L was added to Heterotaxy. Sources: Expert list,Literature,Other\nMode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCL9L were set to 23035047; 8757136\nPhenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease\nReview for gene: BCL9L was set to AMBER\nAdded comment: Novel gene disease association. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents. Functional evidence in zebrafish (PMID 8757136) \nSources: Expert list, Literature, Other","entity_name":"BCL9L","entity_type":"gene"},{"created":"2021-10-25T17:47:29.532289+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 5, multiple subtypes 604229, Optic nerve hypoplasia 165550 AD, Foveal hypoplasia 1 136520 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAX6","entity_type":"gene"},{"created":"2021-10-25T17:46:52.951558+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAX6 as ready","entity_name":"PAX6","entity_type":"gene"},{"created":"2021-10-25T17:46:52.939258+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pax6 has been classified as Green List (High Evidence).","entity_name":"PAX6","entity_type":"gene"},{"created":"2021-10-25T17:46:49.812535+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAX6 were changed from Aniridia 106210 AD; ?Coloboma of optic nerve 120430 AD; ?Morning glory disc anomaly 120430 AD; ?Coloboma, ocular 120200 AD; Anterior segment dysgenesis 5, multiple subtypes 604229; Keratitis 148190 AD; Optic nerve hypoplasia 165550 AD; Cataract with late-onset corneal dystrophy 106210 AD; Foveal hypoplasia 1 136520 AD to Anterior segment dysgenesis 5, multiple subtypes 604229; Optic nerve hypoplasia 165550 AD; Foveal hypoplasia 1 136520 AD","entity_name":"PAX6","entity_type":"gene"},{"created":"2021-10-25T17:45:41.649585+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAX6 were set to ","entity_name":"PAX6","entity_type":"gene"},{"created":"2021-10-25T17:44:08.190263+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NMNAT1 as ready","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:44:08.180464+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nmnat1 has been classified as Green List (High Evidence).","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:44:02.216379+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NMNAT1 were changed from  to Leber congenital amaurosis 9 MIM#608553; Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:43:42.334505+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NMNAT1 were set to ","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:43:35.450411+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NMNAT1 was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:43:26.210066+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NMNAT1","entity_type":"gene"},{"created":"2021-10-25T17:42:25.905120+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NYX as ready","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:42:25.888598+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nyx has been classified as Green List (High Evidence).","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:42:23.634858+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NYX were set to ","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:42:10.978736+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:41:34.773988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NYX as ready","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:41:34.763644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nyx has been classified as Green List (High Evidence).","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:41:27.182416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9470","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NYX were changed from  to Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:41:19.495313+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9469","user_name":"Krithika Murali","item_type":"entity","text":"gene: BCL9L was added\ngene: BCL9L was added to Mendeliome. Sources: Literature,Expert list,Other\nMode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCL9L were set to 23035047; 8757136\nPhenotypes for gene: BCL9L were set to Heterotaxy; Congenital Heart Disease\nReview for gene: BCL9L was set to AMBER\nAdded comment: Novel gene disease assocaition. Saunders et al., 2012 (PMID: 23035047) report biallelic BCL9L variants in 2 affected brothers with heterotaxy and congenital heart disease, heterozygous in unaffected parents.  Functional evidence in zebrafish (PMID 8757136) \nSources: Literature, Expert list, Other","entity_name":"BCL9L","entity_type":"gene"},{"created":"2021-10-25T17:41:09.589150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9469","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NYX were set to ","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:40:47.372552+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9468","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NYX was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:40:29.130920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9467","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:39:31.496312+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:NYX from the panel","entity_name":null,"entity_type":null},{"created":"2021-10-25T17:38:56.736938+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NYX as ready","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:38:56.727672+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nyx has been classified as Green List (High Evidence).","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:38:54.262588+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NYX were set to ","entity_name":"NYX","entity_type":"gene"},{"created":"2021-10-25T17:37:58.236379+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SPATA7 from the panel","entity_name":null,"entity_type":null},{"created":"2021-10-25T17:22:17.923623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9467","user_name":"Krithika Murali","item_type":"entity","text":"gene: ACTC1 was added\ngene: ACTC1 was added to Mendeliome. Sources: Literature,Expert list\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTC1 were set to 17947298; 31430208\nPhenotypes for gene: ACTC1 were set to Atrial septal defect 5 - MIM# 612794; Cardiomyopathy, dilated, 1R - MIM# 613424; Cardiomyopathy, hypertrophic, 11 - #612098; Left ventricular noncompaction 4 - #613424\nReview for gene: ACTC1 was set to GREEN\nAdded comment: Three families reported with congenital heart disease and variants in this gene. Gene is also associated with cardiomyopathies, including paediatric onset. \nSources: Literature, Expert list","entity_name":"ACTC1","entity_type":"gene"},{"created":"2021-10-25T16:51:41.090566+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.22","user_name":"Krithika Murali","item_type":"entity","text":"edited their review of gene: ACTA2: Added comment: Multisystemic smooth muscle dysfunction syndrome (MSMDS) presents with a recognizable pattern of complications, including congenital mydriasis, patent ductus arteriosus (PDA), pulmonary artery hypertension, aortic and other arterial aneurysms, moyamoya-like cerebrovascular disease, intestinal hypoperistalsis and malrotation, and hypotonic bladder.\r\n\r\nMore than 40 unrelated individuals reported, missense at p.Arg179 position.; Changed rating: GREEN; Changed publications: 20734336, 29300374; Changed phenotypes: Multisystemic smooth muscle dysfunction syndrome - MIM# 613834","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-10-25T16:50:04.921622+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.22","user_name":"Krithika Murali","item_type":"entity","text":"Deleted their comment","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-10-25T16:01:10.334364+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA7 as ready","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T16:01:10.321348+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata7 has been classified as Green List (High Evidence).","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T16:01:08.493951+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPATA7 were changed from  to Leber congenital amaurosis 3, MIM# 604232","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T16:01:01.445746+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPATA7 were set to ","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T16:00:54.741944+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SPATA7 was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T16:00:46.287458+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19268277, 21310915; Phenotypes: Leber congenital amaurosis 3, MIM# 604232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPATA7","entity_type":"gene"},{"created":"2021-10-25T15:59:07.691100+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRPM1 as ready","entity_name":"TRPM1","entity_type":"gene"},{"created":"2021-10-25T15:59:07.679539+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trpm1 has been classified as Green List (High Evidence).","entity_name":"TRPM1","entity_type":"gene"},{"created":"2021-10-25T15:59:04.470482+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRPM1 were set to ","entity_name":"TRPM1","entity_type":"gene"},{"created":"2021-10-25T15:58:54.241287+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19878917, 19896113, 19896109; Phenotypes: Night blindness, congenital stationary (complete), 1C, autosomal recessive, MIM# 613216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRPM1","entity_type":"gene"},{"created":"2021-10-25T15:57:23.490017+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TULP1 as ready","entity_name":"TULP1","entity_type":"gene"},{"created":"2021-10-25T15:57:23.480065+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tulp1 has been classified as Green List (High Evidence).","entity_name":"TULP1","entity_type":"gene"},{"created":"2021-10-25T15:57:21.525825+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TULP1 were changed from Retinitis pigmentosa 14 600132 AR; Leber congenital amaurosis 15 613843 AR to Leber congenital amaurosis 15, MIM# 613843","entity_name":"TULP1","entity_type":"gene"},{"created":"2021-10-25T15:57:12.289198+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TULP1 were set to ","entity_name":"TULP1","entity_type":"gene"},{"created":"2021-10-25T15:57:01.779295+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15024725, 17962469, 24547928; Phenotypes: Leber congenital amaurosis 15, MIM# 613843; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TULP1","entity_type":"gene"},{"created":"2021-10-25T15:52:53.935460+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.22","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ACTA2: Rating: RED; Mode of pathogenicity: None; Publications: 17994018; Phenotypes: Aortic aneurysm, familial thoracic 6 - 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-10-25T15:51:39.048556+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TYR as ready","entity_name":"TYR","entity_type":"gene"},{"created":"2021-10-25T15:51:39.035138+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tyr has been classified as Green List (High Evidence).","entity_name":"TYR","entity_type":"gene"},{"created":"2021-10-25T15:51:37.373956+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TYR were changed from Albinism, oculocutaneous, type IA; Waardenburg syndrome/albinism, digenic; Oculocutaneous Albinism; Albinism, oculocutaneous, type IB to Albinism, oculocutaneous, type IA, MIM# 203100; Albinism, oculocutaneous, type IB, MIM# 606952","entity_name":"TYR","entity_type":"gene"},{"created":"2021-10-25T15:51:24.353897+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TYR","entity_type":"gene"},{"created":"2021-10-25T15:51:13.136198+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Nystagmus is a feature.","entity_name":"TYR","entity_type":"gene"},{"created":"2021-10-25T15:50:57.514383+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TYRP1: Well established gene-disease association, nystagmus is a feature.","entity_name":"TYRP1","entity_type":"gene"},{"created":"2021-10-25T15:50:37.193600+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TYRP1 as ready","entity_name":"TYRP1","entity_type":"gene"},{"created":"2021-10-25T15:50:37.182713+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tyrp1 has been classified as Green List (High Evidence).","entity_name":"TYRP1","entity_type":"gene"},{"created":"2021-10-25T15:50:35.324738+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TYRP1 were changed from Oculocutaneous Albinism; Albinism, oculocutaneous, type III to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747","entity_name":"TYRP1","entity_type":"gene"},{"created":"2021-10-25T15:50:27.837558+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TYRP1 were set to ","entity_name":"TYRP1","entity_type":"gene"},{"created":"2021-10-25T15:49:55.161758+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP45 as ready","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:49:55.151890+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp45 has been classified as Green List (High Evidence).","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:49:53.318644+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP45 were changed from  to Leber congenital amaurosis; retinal dystrophy","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:49:46.564265+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP45 were set to ","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:49:39.299906+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: USP45 was changed from  to BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:49:30.659575+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP45: Rating: GREEN; Mode of pathogenicity: None; Publications: 30573563; Phenotypes: Leber congenital amaurosis, retinal dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP45","entity_type":"gene"},{"created":"2021-10-25T15:47:35.925849+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS6 as ready","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-10-25T15:47:35.916492+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps6 has been classified as Green List (High Evidence).","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-10-25T15:47:33.467787+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS6 were changed from Hermansky-Pudlak syndrome 6 614075 AR to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-10-25T15:47:26.063918+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS6 were set to ","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-10-25T15:47:15.986553+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.\r\n\r\nNystagmus is a feature.","entity_name":"HPS6","entity_type":"gene"},{"created":"2021-10-25T15:46:53.245050+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS5 as ready","entity_name":"HPS5","entity_type":"gene"},{"created":"2021-10-25T15:46:53.234374+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps5 has been classified as Green List (High Evidence).","entity_name":"HPS5","entity_type":"gene"},{"created":"2021-10-25T15:46:51.242665+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HPS5 were changed from Hermansky-Pudlak syndrome 5 to Hermansky-Pudlak syndrome 5 (MIM#614074)","entity_name":"HPS5","entity_type":"gene"},{"created":"2021-10-25T15:46:42.889218+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HPS5 were set to 12548288; 18182080; 27593200; 26785811; 28296950","entity_name":"HPS5","entity_type":"gene"},{"created":"2021-10-25T15:46:29.338817+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"HPS5","entity_type":"gene"},{"created":"2021-10-25T15:45:25.453097+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPS4 as ready","entity_name":"HPS4","entity_type":"gene"},{"created":"2021-10-25T15:45:25.442376+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hps4 has been classified as Green List (High Evidence).","entity_name":"HPS4","entity_type":"gene"}]}