{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=838","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=836","results":[{"created":"2022-05-16T17:51:51.813548+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RP2 as ready","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:51:51.803664+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rp2 has been classified as Green List (High Evidence).","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:51:44.298350+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RP2 were set to ","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:51:26.204820+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14368","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RP2 were changed from  to Retinitis pigmentosa 2 MIM#312600","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:51:03.575207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14367","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RP2 were set to ","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:50:42.889348+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14366","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RP2","entity_type":"gene"},{"created":"2022-05-16T17:49:34.095738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RP9 as ready","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:49:34.083341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rp9 has been classified as Red List (Low Evidence).","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:49:24.752311+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RP9 were changed from  to Retinitis pigmentosa 9 MIM#180104","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:49:03.985416+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RP9 were set to ","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:48:42.040407+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:43:14.442754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14362","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RP9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:42:43.464913+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMC8 were changed from  to Epidermodysplasia verruciformis 2, MIM# 618231","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:42:18.979099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14361","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RP9 as Red List (low evidence)","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:42:18.967126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rp9 has been classified as Red List (Low Evidence).","entity_name":"RP9","entity_type":"gene"},{"created":"2022-05-16T17:41:09.997127+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14360","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RYR1 as ready","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:41:09.987618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14360","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ryr1 has been classified as Green List (High Evidence).","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:41:01.242332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14360","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RYR1 were changed from  to {Malignant hyperthermia susceptibility 1} MIM#145600; Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:40:33.718176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14359","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RYR1 were set to ","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:40:11.824475+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14358","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:39:49.064422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14357","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease, MIM# 117000, King-Denborough syndrome , MIM#619542, Minicore myopathy with external ophthalmoplegia , MIM#255320, Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"RYR1","entity_type":"gene"},{"created":"2022-05-16T17:38:01.606609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SACS as ready","entity_name":"SACS","entity_type":"gene"},{"created":"2022-05-16T17:38:01.574215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sacs has been classified as Green List (High Evidence).","entity_name":"SACS","entity_type":"gene"},{"created":"2022-05-16T17:37:00.998496+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SACS were changed from  to Spastic ataxia, Charlevoix-Saguenay type MIM#270550","entity_name":"SACS","entity_type":"gene"},{"created":"2022-05-16T17:36:40.059503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14356","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SACS","entity_type":"gene"},{"created":"2022-05-16T17:36:20.387107+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14355","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SACS.","entity_name":"SACS","entity_type":"gene"},{"created":"2022-05-16T17:35:25.807532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN11A as ready","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:35:25.796183+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn11a has been classified as Green List (High Evidence).","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:35:16.905413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN11A were changed from  to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Episodic pain syndrome, familial, 3, MIM# 615552","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:34:57.257594+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN11A were set to ","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:32:14.077692+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14353","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:31:14.162526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14352","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCN11A: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548, Episodic pain syndrome, familial, 3, MIM# 615552","entity_name":"SCN11A","entity_type":"gene"},{"created":"2022-05-16T17:26:03.310738+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMC8 were set to ","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:25:33.215839+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:25:00.403549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14352","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMC8 as ready","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:25:00.393936+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14352","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmc8 has been classified as Green List (High Evidence).","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:24:32.409359+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:24:16.984102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14352","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMC8 were changed from  to Epidermodysplasia verruciformis 2, MIM# 618231","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:23:55.422909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14351","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMC8 were set to ","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:23:16.387514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14350","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:22:20.693487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14349","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 28646613; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMC8","entity_type":"gene"},{"created":"2022-05-16T17:04:34.964483+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14349","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: ATP6V0A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T17:01:40.431418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14348","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP6V0A1 as Green List (high evidence)","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T17:01:40.421558+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14348","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v0a1 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T17:01:25.677658+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1604","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP6V0A1 as ready","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T17:01:25.667768+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1604","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v0a1 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T16:59:21.086988+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1604","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP6V0A1 as Green List (high evidence)","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T16:59:21.077570+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1604","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp6v0a1 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T16:59:09.996987+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14347","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ATP6V0A1 were set to 30842224; 33057194","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T16:57:31.223652+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14346","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: ATP6V0A1 were changed from Developmental disorder; Rett syndrome-like to Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated","entity_name":"ATP6V0A1","entity_type":"gene"},{"created":"2022-05-16T16:55:42.827809+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326942, 11453974, 11868161, 21447491, 25429852, 14718298; Phenotypes: Fundus albipunctatus MIM#136880, Bothnia retinal dystrophy MIM#607475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RLBP1","entity_type":"gene"},{"created":"2022-05-16T16:28:40.458556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Chern Lim","item_type":"entity","text":"gene: RBFOX2 was added\ngene: RBFOX2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBFOX2 were set to PMID: 26785492; 27670201; 27485310; 25205790; 35137168\nPhenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS)\nReview for gene: RBFOX2 was set to AMBER\ngene: RBFOX2 was marked as current diagnostic\nAdded comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS).\r\nNo further patient-specific clinical or variant info were available.\r\n\r\n- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.\r\n- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.\r\n\r\n- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.\r\n\r\n- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS. \nSources: Literature","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2022-05-16T15:06:09.808542+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Abhijit Kulkarni","item_type":"entity","text":"reviewed gene: ATF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ATF1","entity_type":"gene"},{"created":"2022-05-16T12:35:38.747913+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:35:12.167830+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:34:26.487798+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to 35518358; 29220673","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:34:06.784190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4780","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:33:54.052020+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:33:39.964670+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4780","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:33:25.789388+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to 35518358; 29220673","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:33:01.135474+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4780","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to 35518358; 29220673","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:32:25.468736+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4779","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRIA4 as ready","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:32:25.405873+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4779","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gria4 has been classified as Green List (High Evidence).","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:31:50.051839+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1603","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:31:15.888008+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4779","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from  to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:31:15.865169+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1602","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from  to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:30:01.711826+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4779","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to ","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:30:01.678711+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1602","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to ","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:28:54.870669+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4779","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:28:42.721710+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1602","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRIA4 as ready","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:28:42.709001+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1602","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gria4 has been classified as Green List (High Evidence).","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:28:39.982384+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1602","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:27:34.132284+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1601","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:27:32.689660+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:25:47.126424+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRIA4 as ready","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:25:47.115562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Ain Roesley","item_type":"entity","text":"Gene: gria4 has been classified as Green List (High Evidence).","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:25:34.711200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIA4 were changed from  to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:25:25.910919+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRIA4 were set to ","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:25:13.268738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14345","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:24:47.102572+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14344","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GRIA4","entity_type":"gene"},{"created":"2022-05-16T12:20:04.097287+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRID2 were changed from  to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:19:49.271377+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRID2 as ready","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:19:49.248678+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"Gene: grid2 has been classified as Green List (High Evidence).","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:19:41.562046+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRID2 were set to ","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:19:20.414714+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4778","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: GRID2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:18:49.348514+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4777","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622959, 32170608; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18 MIM#616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:17:42.036429+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRID2 as ready","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:17:42.022499+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Gene: grid2 has been classified as Green List (High Evidence).","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:17:39.465797+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: GRID2 as Green List (high evidence)","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:17:39.455727+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Gene: grid2 has been classified as Green List (High Evidence).","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:17:33.158379+10:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"gene: GRID2 was added\ngene: GRID2 was added to Congenital nystagmus. Sources: Literature\nMode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRID2 were set to 32622959\nPhenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204\nReview for gene: GRID2 was set to GREEN\ngene: GRID2 was marked as current diagnostic\nAdded comment: Nystagmus reported in majority of cases \nSources: Literature","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:12:50.895530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14344","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRID2 as ready","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:12:50.885424+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14344","user_name":"Ain Roesley","item_type":"entity","text":"Gene: grid2 has been classified as Green List (High Evidence).","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:11:52.118632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14344","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRID2 were changed from  to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:11:46.106292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14344","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: GRID2 were set to ","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:11:32.726109+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14343","user_name":"Ain Roesley","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GRID2.","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:10:44.309793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14343","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622959, 32170608; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18 MIM#616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GRID2","entity_type":"gene"},{"created":"2022-05-16T12:00:13.651805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14343","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: GRIN2D as ready","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2022-05-16T12:00:13.636350+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14343","user_name":"Ain Roesley","item_type":"entity","text":"Gene: grin2d has been classified as Green List (High Evidence).","entity_name":"GRIN2D","entity_type":"gene"},{"created":"2022-05-16T12:00:02.648964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.14343","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: GRIN2D were changed from  to Developmental and epileptic encephalopathy 46 MIM#617162","entity_name":"GRIN2D","entity_type":"gene"}]}