{"count":221292,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1930","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1928","results":[{"created":"2020-02-12T14:41:25.185958+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PREPL as ready","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:41:25.177256+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prepl has been classified as Amber List (Moderate Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:41:19.574357+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PREPL were set to ","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:41:11.093951+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PREPL as Amber List (moderate evidence)","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:41:11.062514+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prepl has been classified as Amber List (Moderate Evidence).","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:41:02.493045+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PREPL: Rating: AMBER; Mode of pathogenicity: None; Publications: 29483676, 28726805, 24610330, 27472506; Phenotypes: Myasthenic syndrome, congenital, 22, MIM# 616224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PREPL","entity_type":"gene"},{"created":"2020-02-12T14:38:30.271997+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: UPB1 as Amber List (moderate evidence)","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:38:30.241231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Gene: upb1 has been classified as Amber List (Moderate Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:38:08.973637+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: UPB1 as Amber List (moderate evidence)","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:38:08.964629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Gene: upb1 has been classified as Amber List (Moderate Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:37:49.131524+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: UPB1 as Amber List (moderate evidence)","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:37:49.115820+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2132","user_name":"Chirag Patel","item_type":"entity","text":"Gene: upb1 has been classified as Amber List (Moderate Evidence).","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:37:09.680265+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2131","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: UPB1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Beta-ureidopropionase deficiency, OMIM #613161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UPB1","entity_type":"gene"},{"created":"2020-02-12T14:30:12.741946+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2131","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: UFC1 as Green List (high evidence)","entity_name":"UFC1","entity_type":"gene"},{"created":"2020-02-12T14:30:12.724477+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2131","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ufc1 has been classified as Green List (High Evidence).","entity_name":"UFC1","entity_type":"gene"},{"created":"2020-02-12T14:26:37.284927+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2130","user_name":"Chirag Patel","item_type":"entity","text":"gene: UFC1 was added\ngene: UFC1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UFC1 were set to PubMed: 29868776\nPhenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth; OMIM #618076\nReview for gene: UFC1 was set to GREEN\nAdded comment: 3 consanguineous Saudi families with neurodevelopmental disorder with spasticity and poor growth with a homozygous missense mutation in the UFC1 gene. An unrelated Swiss boy with same phenotype found to have a different homozygous mutation in the UFC1 gene. Total 8 patients from 4 families.\r\n\r\nThe mutations segregated with the disorder in the families. In vitro functional expression studies showed that both mutations caused impaired thioester binding with UFM1 (610553). Patient cells also showed decreased UFC1 intermediate formation with UFM1. The decrease in function was consistent with a hypomorphic allele, and Nahorski et al. (2018) suggested that complete loss of function would be embryonic lethal. \nSources: Expert list","entity_name":"UFC1","entity_type":"gene"},{"created":"2020-02-12T14:25:05.635709+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPH3A as ready","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-02-12T14:25:05.621860+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rph3a has been classified as Red List (Low Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-02-12T14:25:00.373988+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPH3A as Red List (low evidence)","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-02-12T14:25:00.365698+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rph3a has been classified as Red List (Low Evidence).","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-02-12T14:19:38.821730+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A1 as ready","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2020-02-12T14:19:38.812635+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a1 has been classified as Green List (High Evidence).","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2020-02-12T14:19:32.993005+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC25A1 were set to ","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2020-02-12T14:19:08.163581+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP25 as ready","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:19:08.149337+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap25 has been classified as Red List (Low Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:19:05.114095+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP25 were set to ","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:18:55.916021+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNAP25 as Red List (low evidence)","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:18:55.902548+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap25 has been classified as Red List (Low Evidence).","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:18:21.549894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1339","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:18:04.143101+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from  to Congenital myasthenia; dyskinesia; autism; developmental delay","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:17:26.414518+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.10","user_name":"Kunal Verma","item_type":"entity","text":"reviewed gene: SNAP25: Rating: RED; Mode of pathogenicity: None; Publications: 25381298; Phenotypes: ?Myasthenic syndrome, congenital, 18 616330; Mode of inheritance: None","entity_name":"SNAP25","entity_type":"gene"},{"created":"2020-02-12T14:16:16.233939+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UNC13A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:15:48.833220+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UNC13A as Red List (low evidence)","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:15:48.814779+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc13a has been classified as Red List (Low Evidence).","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:15:17.730433+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:12:15.984494+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UNC13A as ready","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:12:15.971069+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc13a has been classified as Red List (Low Evidence).","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:12:13.602879+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UNC13A were changed from microcephaly, cortical hyperexcitability, and fatal myasthenia to microcephaly, cortical hyperexcitability, and fatal myasthenia; dyskinesia; autism; developmental delay","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:10:58.724990+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UNC13A as Red List (low evidence)","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:10:58.711191+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: unc13a has been classified as Red List (Low Evidence).","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:10:48.900481+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UNC13A: Rating: RED; Mode of pathogenicity: None; Publications: 27648472, 28192369; Phenotypes: Congenital myasthenia, dyskinesia, autism, developmental delay; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"UNC13A","entity_type":"gene"},{"created":"2020-02-12T14:10:01.006414+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.8","user_name":"Kunal Verma","item_type":"entity","text":"reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26870663, 31527857; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic 618197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2020-02-12T14:05:50.662937+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VAMP1 as ready","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-02-12T14:05:50.648169+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vamp1 has been classified as Green List (High Evidence).","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-02-12T14:05:45.255679+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VAMP1 were changed from presynaptic CMS; Congenital myasthenic syndrome to presynaptic CMS; Myasthenic syndrome, congenital, 25, MIM# 618323","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-02-12T14:05:29.706623+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VAMP1 were set to ","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-02-12T14:05:17.058323+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VAMP1","entity_type":"gene"},{"created":"2020-02-12T14:02:23.791292+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLEC as ready","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-12T14:02:23.781189+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Green List (High Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-12T14:02:08.544048+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLEC as Green List (high evidence)","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-12T14:02:08.535296+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plec has been classified as Green List (High Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-12T14:01:53.712296+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.5","user_name":"Kunal Verma","item_type":"entity","text":"reviewed gene: RPH3A: Rating: RED; Mode of pathogenicity: None; Publications: 29441694; Phenotypes: congenital myasthenic syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPH3A","entity_type":"gene"},{"created":"2020-02-12T14:01:28.504596+11:00","panel_name":"Congenital Myasthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Congenital Myaesthenic Syndrome_RMH to Congenital Myasthenic Syndrome_RMH\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-12T13:55:58.349365+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG14 as ready","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:55:58.336247+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg14 has been classified as Green List (High Evidence).","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:55:41.216074+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG14 were changed from  to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:55:04.034333+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG14 were set to ","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:54:43.419241+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:54:14.840243+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.4","user_name":"Kunal Verma","item_type":"entity","text":"gene: PLEC was added\ngene: PLEC was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert list\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEC were set to 31509265; 21263134; 20624679\nPhenotypes for gene: PLEC were set to epidermolysis bullosa; congenital myasthenic syndrome\nReview for gene: PLEC was set to GREEN\nAdded comment: 5 patients from three independent families; all had EB, some additionally had muscular dystrophy. \nSources: Expert list","entity_name":"PLEC","entity_type":"gene"},{"created":"2020-02-12T13:53:25.439862+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG14 as ready","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:53:25.426480+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg14 has been classified as Green List (High Evidence).","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:52:24.429594+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG14 were set to ","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:52:01.313986+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB2 as ready","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:52:01.300104+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb2 has been classified as Red List (Low Evidence).","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:51:58.181109+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB2 were changed from congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations to Pierson syndrome, MIM# 609049; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:51:43.552052+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB2 were set to ","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:51:34.083529+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMB2 as Red List (low evidence)","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:51:34.074773+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb2 has been classified as Red List (Low Evidence).","entity_name":"LAMB2","entity_type":"gene"},{"created":"2020-02-12T13:43:49.166949+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: None; Publications: 26293662; Phenotypes: Hyperphosphatasia with mental retardation syndrome 6, MIM# 616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIGY","entity_type":"gene"},{"created":"2020-02-12T13:30:28.430661+11:00","panel_name":"Congenital Myaesthenic Syndrome_RMH","panel_id":3078,"panel_version":"0.0","user_name":"K V","item_type":"entity","text":"reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: None; Publications: 23404334, 28733338; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Myasthenia, myopathy, neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-02-12T13:27:59.815055+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGP as ready","entity_name":"PIGP","entity_type":"gene"},{"created":"2020-02-12T13:27:59.806175+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigp has been classified as Amber List (Moderate Evidence).","entity_name":"PIGP","entity_type":"gene"},{"created":"2020-02-12T13:27:50.755750+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGP as Amber List (moderate evidence)","entity_name":"PIGP","entity_type":"gene"},{"created":"2020-02-12T13:27:50.742054+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pigp has been classified as Amber List (Moderate Evidence).","entity_name":"PIGP","entity_type":"gene"},{"created":"2020-02-12T13:26:57.620613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2125","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIGP was added\ngene: PIGP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIGP were set to 28334793; 31139695\nPhenotypes for gene: PIGP were set to Epileptic encephalopathy, early infantile, 55, 617599\nReview for gene: PIGP was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list","entity_name":"PIGP","entity_type":"gene"},{"created":"2020-02-12T13:12:48.383314+11:00","panel_name":"Rhabdomyolysis_RMH","panel_id":3084,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACADM as ready","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-02-12T13:12:48.374680+11:00","panel_name":"Rhabdomyolysis_RMH","panel_id":3084,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acadm has been classified as Red List (Low Evidence).","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-02-12T13:12:45.992061+11:00","panel_name":"Rhabdomyolysis_RMH","panel_id":3084,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACADM as Red List (low evidence)","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-02-12T13:12:45.979490+11:00","panel_name":"Rhabdomyolysis_RMH","panel_id":3084,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: acadm has been classified as Red List (Low Evidence).","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-02-12T13:12:37.294619+11:00","panel_name":"Rhabdomyolysis_RMH","panel_id":3084,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADM","entity_type":"gene"},{"created":"2020-02-12T13:08:24.774732+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2124","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZBTB11 as Amber List (moderate evidence)","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2020-02-12T13:08:24.760329+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2124","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zbtb11 has been classified as Amber List (Moderate Evidence).","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2020-02-12T13:07:51.273665+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2123","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ZBTB11: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 29893856; Phenotypes: Intellectual developmental disorder, autosomal recessive 69, OMIM #618383; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZBTB11","entity_type":"gene"},{"created":"2020-02-12T13:05:01.869031+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2123","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZBTB16 as Amber List (moderate evidence)","entity_name":"ZBTB16","entity_type":"gene"},{"created":"2020-02-12T13:05:01.855424+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2123","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zbtb16 has been classified as Amber List (Moderate Evidence).","entity_name":"ZBTB16","entity_type":"gene"},{"created":"2020-02-12T13:04:27.159206+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2122","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ZBTB16: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18611983; Phenotypes: Skeletal defects, genital hypoplasia, and mental retardation, OMIM #612447; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZBTB16","entity_type":"gene"},{"created":"2020-02-12T12:58:20.523921+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1339","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TOR1AIP1 as Green List (high evidence)","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-02-12T12:58:20.517644+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1339","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Phenotype appears to be variable depending on which isoform is affected by the variants.","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-02-12T12:58:20.486275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1339","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tor1aip1 has been classified as Green List (High Evidence).","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-02-12T12:53:28.120005+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1338","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 24856141; 31299614; 30723199; 27342937\nPhenotypes for gene: TOR1AIP1 were set to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures MIM#617072\nReview for gene: TOR1AIP1 was set to GREEN\nAdded comment: At least 5 families/cases reported with muscular dystrophy and sometimes cardiomyopathy. \nSources: Expert list","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-02-12T12:44:18.156637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1337","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:43:48.508709+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Emerging evidence.; to: 12 unrelated individuals now published.","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:43:15.735354+11:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:42:59.243739+11:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PPP1R12A were set to ","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:42:20.903734+11:00","panel_name":"Disorders of Sex Differentiation","panel_id":99,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:41:40.738251+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2122","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPP1R12A: Changed rating: GREEN; Changed publications: 31883643","entity_name":"PPP1R12A","entity_type":"gene"},{"created":"2020-02-12T12:12:19.463063+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2122","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-12T12:11:48.176024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2121","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ZBTB24: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 21906047, 21596365, 23486536; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM # 614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2020-02-12T12:10:55.906652+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SPTBN4 as Green List (high evidence)","entity_name":"SPTBN4","entity_type":"gene"},{"created":"2020-02-12T12:10:55.893312+11:00","panel_name":"Hereditary Neuropathy - complex_RMH","panel_id":3070,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sptbn4 has been classified as Green List (High Evidence).","entity_name":"SPTBN4","entity_type":"gene"}]}