{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=806","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=804","results":[{"created":"2022-06-22T12:53:28.105460+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDUFA11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NDUFA11","entity_type":"gene"},{"created":"2022-06-22T12:52:24.007912+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCM4 as ready","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:52:23.996827+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Red List (Low Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:52:17.261085+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MCM4 were changed from Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3) to Immunodeficiency 54, MIM# 609981","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:52:04.684023+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM4 were set to ","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:51:52.510298+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM4 as Red List (low evidence)","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:51:52.502233+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm4 has been classified as Red List (Low Evidence).","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:51:41.349168+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"MCM4","entity_type":"gene"},{"created":"2022-06-22T12:50:47.577298+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDHB as ready","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-06-22T12:50:47.568436+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldhb has been classified as Red List (Low Evidence).","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-06-22T12:50:38.561610+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LDHB as Red List (low evidence)","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-06-22T12:50:38.548972+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldhb has been classified as Red List (Low Evidence).","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-06-22T12:49:52.532813+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IGFBP7 as ready","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:52.521292+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Red List (Low Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:48.944435+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IGFBP7 were changed from Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3) to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, MIM#614224","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:34.113327+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IGFBP7 were set to ","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:22.152657+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IGFBP7 as Red List (low evidence)","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:22.144653+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: igfbp7 has been classified as Red List (Low Evidence).","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:49:09.220417+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IGFBP7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"IGFBP7","entity_type":"gene"},{"created":"2022-06-22T12:44:01.965326+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EMG1 as ready","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:44:01.872590+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emg1 has been classified as Red List (Low Evidence).","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:43:49.364881+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EMG1 were set to ","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:43:36.019386+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EMG1 as Red List (low evidence)","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:43:35.997333+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: emg1 has been classified as Red List (Low Evidence).","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:43:25.589827+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EMG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"EMG1","entity_type":"gene"},{"created":"2022-06-22T12:42:49.958570+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DSTYK as ready","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:49.948518+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dstyk has been classified as Red List (Low Evidence).","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:46.542836+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DSTYK were changed from Spastic paraplegia 23, 270750 (3), Autosomal recessive to Spastic paraplegia 23, MIM# 270750","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:33.905453+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSTYK were set to ","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:23.104825+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DSTYK as Red List (low evidence)","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:23.091950+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dstyk has been classified as Red List (Low Evidence).","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:42:10.976162+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"DSTYK","entity_type":"gene"},{"created":"2022-06-22T12:40:55.808283+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALG2 as ready","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:40:55.799127+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg2 has been classified as Red List (Low Evidence).","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:40:51.018196+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG2 were changed from Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3) to Myasthenic syndrome, congenital, 14, with tubular aggregates, MIM# 616228; Congenital disorder of glycosylation, type Ii, MIM# 607906","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:40:38.732325+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALG2 were set to ","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:39:53.745028+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALG2 as Red List (low evidence)","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:39:53.736482+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alg2 has been classified as Red List (Low Evidence).","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:39:42.234644+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ALG2","entity_type":"gene"},{"created":"2022-06-22T12:38:39.367704+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIBF1 as ready","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-22T12:38:39.349976+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pibf1 has been classified as Green List (High Evidence).","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-22T12:38:26.405002+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIBF1 as Green List (high evidence)","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-22T12:38:26.391681+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pibf1 has been classified as Green List (High Evidence).","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-22T12:38:15.719553+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIBF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 33 (MIM#617767); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIBF1","entity_type":"gene"},{"created":"2022-06-20T17:58:32.104654+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.208","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: APOL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:58:08.420561+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.207","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of pathogenicity for gene: APOL1 was changed from  to Other","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:56:19.573352+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.206","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: APOL1 were set to 20647424; 24206458; 20635188","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:55:36.685076+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: APOL1 as Amber List (moderate evidence)","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:55:36.681425+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Assigning amber status, because this is a susceptibility allele","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:55:36.663941+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.205","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: apol1 has been classified as Amber List (Moderate Evidence).","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-20T17:53:17.711983+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.204","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: APOL1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20647424, 25993319, 34350953; Phenotypes: focal segmental glomerulosclerosis 4, susceptibility to MONDO:0012931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"APOL1","entity_type":"gene"},{"created":"2022-06-19T18:01:42.491179+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T18:01:22.418127+10:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase 301083","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T18:00:23.457516+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T17:59:59.780949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T17:59:52.752040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Added comment: Variants in GATA1 are associated with a number of haematological disorders, which probably represent a spectrum rather than distinct entities.; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T17:58:37.268669+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-19T17:57:49.313896+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GATA1: Changed phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367, Haemolytic anemia due to elevated adenosine deaminase 301083","entity_name":"GATA1","entity_type":"gene"},{"created":"2022-06-18T18:18:53.652134+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR4A2 were changed from Intellectual Disability; Dystonia and Early-onset Parkinson to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:18:27.614729+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1627","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR4A2 were changed from Generalized hypotonia, Global developmental delay, Intellectual disability, Seizures, Behavioral abnormality, Abnormality of movement, Joint hypermobility to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:17:42.647285+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NR4A2: Changed phenotypes: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:17:27.984328+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR4A2 were changed from Intellectual Disability; Dystonia and Early-onset Parkinson to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:16:43.659112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR4A2 were changed from Intellectual disability; epilepsy to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:16:25.631882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NR4A2: Changed phenotypes: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM# 619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-18T18:15:59.688378+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4828","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR4A2 were changed from Intellectual disability; rolandic epilepsy; autism to Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, MIM#\t619911","entity_name":"NR4A2","entity_type":"gene"},{"created":"2022-06-17T12:10:22.438348+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.73","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes","entity_name":"KCNA5","entity_type":"gene"},{"created":"2022-06-17T11:09:46.718683+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4827","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC2 as ready","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:09:46.704981+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc2 has been classified as Green List (High Evidence).","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:09:41.353672+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4827","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC2 as Green List (high evidence)","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:09:41.345978+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4827","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc2 has been classified as Green List (High Evidence).","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:09:12.420167+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4826","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNC2 was added\ngene: KCNC2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC2 were set to 32392612; 31972370; 35314505\nPhenotypes for gene: KCNC2 were set to Developmental and epileptic encephalopathy 103, MIM# 619913\nReview for gene: KCNC2 was set to GREEN\nAdded comment: More than 10 unrelated families reported. ID ranges from mild to severe. \nSources: Expert Review","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:08:27.014526+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC2 were changed from Developmental and epileptic encephalopathy 103, MIM# 619913 to Developmental and epileptic encephalopathy 103, MIM# 619913","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:07:35.510844+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1625","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC2 were changed from epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome to Developmental and epileptic encephalopathy 103, MIM# 619913","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:06:55.792202+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1624","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC2 were set to PMID:32392612; 31972370","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:06:20.515536+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC2 as Green List (high evidence)","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:06:20.506047+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc2 has been classified as Green List (High Evidence).","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:05:49.731655+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1622","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314505; Phenotypes: Developmental and epileptic encephalopathy 103, MIM# 619913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:05:07.075874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC2 were changed from epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome to Developmental and epileptic encephalopathy 103, MIM# 619913","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:04:45.857901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC2 were set to 32392612; 31972370","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:03:58.047560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC2 as Green List (high evidence)","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:03:58.028469+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc2 has been classified as Green List (High Evidence).","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T11:03:38.676435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314505; Phenotypes: Developmental and epileptic encephalopathy 103, MIM# 619913; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC2","entity_type":"gene"},{"created":"2022-06-17T07:19:15.564940+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNJ1 were set to 28630040","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2022-06-17T07:18:50.523038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841184, 19096086, 7635463, 12086641, 9580661, 12122007; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNJ1","entity_type":"gene"},{"created":"2022-06-16T07:11:04.988355+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A1 as ready","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:11:04.976162+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a1 has been classified as Green List (High Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:11:01.579156+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage; {Hemorrhage, intracerebral, susceptibility to} to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773; Brain small vessel disease with or without ocular anomalies, MIM# 175780","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:10:44.805569+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL4A1 were set to ","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:10:26.282004+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:10:09.326614+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL4A1 as Green List (high evidence)","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:10:09.317906+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a1 has been classified as Green List (High Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:09:53.416357+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773, Brain small vessel disease with or without ocular anomalies, MIM# 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2022-06-16T07:06:37.410991+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4825","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-16T07:06:06.092267+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4824","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-16T07:05:45.535842+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1622","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-16T07:05:11.920936+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1621","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-16T07:04:40.872333+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related to Intellectual developmental disorder, autosomal dominant 66, MIM# 619910","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-16T07:04:19.460273+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal dominant 66, MIM# 619910; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP2B1","entity_type":"gene"},{"created":"2022-06-15T22:29:53.716876+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4824","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRDM13 were changed from Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"},{"created":"2022-06-15T22:29:01.771648+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4823","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRDM13: Added comment: Note only single family reported with MIM#619761. The two disorders likely represent a continuum of severity.; Changed phenotypes: Pontocerebellar hypoplasia, type 17, MIM# 619909, Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761","entity_name":"PRDM13","entity_type":"gene"}]}