{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1942","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1940","results":[{"created":"2020-02-04T17:56:39.930693+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PTPN11: Changed rating: RED","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-04T17:56:27.912993+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital; to: Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospital","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-02-04T17:54:50.753156+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:54:49.126980+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.69","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SMAD9 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:54:40.113407+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SOX17 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:54:28.851212+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:SOX18 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:54:00.053318+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:53:46.636024+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:TBX4 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:52:39.239821+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC7A as ready","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:52:39.229077+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc7a has been classified as Green List (High Evidence).","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:52:38.558917+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:BMPR1B from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:52:37.774762+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC7A were changed from Gastrointestinal defects and immunodeficiency syndrome, 243150 to Gastrointestinal defects and immunodeficiency syndrome, 243150","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:52:23.066460+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.64","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:ATP13A3 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:52:15.225712+11:00","panel_name":"Inherited Vascular Malformations","panel_id":300,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:AQP1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-02-04T17:51:51.253276+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC7A were changed from  to Gastrointestinal defects and immunodeficiency syndrome, 243150","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:51:14.601933+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC7A were set to ","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:50:56.428025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1242","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC7A as ready","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:50:56.415839+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc7a has been classified as Green List (High Evidence).","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:50:34.545623+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:49:45.782238+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:49:27.081316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC7A were changed from  to Gastrointestinal defects and immunodeficiency syndrome, 243150","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:48:44.594683+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1241","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC7A were set to ","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T17:48:26.508714+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1240","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC7A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T16:57:38.977166+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1239","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Epileptic encephalopathy, early infantile, 54 (MIM#617391); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"HNRNPU","entity_type":"gene"},{"created":"2020-02-04T16:04:47.035881+11:00","panel_name":"Leukodystrophy - paediatric_RMH","panel_id":298,"panel_version":"0.49","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TMEM106B: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29186371, 29444210, 28728022, 30643851; Phenotypes: Leukodystrophy, hypomyelinating, 16, (MIM #617964); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TMEM106B","entity_type":"gene"},{"created":"2020-02-04T14:59:08.677532+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.563","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SERPINI1 was added\ngene: SERPINI1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SERPINI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SERPINI1 were set to 28631894; 25401298; 12103288\nPhenotypes for gene: SERPINI1 were set to Encephalopathy, familial, with neuroserpin inclusion bodies MIM#604218\nReview for gene: SERPINI1 was set to GREEN\nAdded comment: >3 unrelated families with progressive myoclonus epilepsy. \nSources: Expert list","entity_name":"SERPINI1","entity_type":"gene"},{"created":"2020-02-04T14:52:24.599618+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.562","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NEU1 was added\ngene: NEU1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEU1 were set to 25401298; 14517945\nPhenotypes for gene: NEU1 were set to Sialidosis, type I/II MIM#256550\nReview for gene: NEU1 was set to GREEN\nAdded comment: >3 unrelated cases/families reported with progressive myoclonic epilepsy \nSources: Expert list","entity_name":"NEU1","entity_type":"gene"},{"created":"2020-02-04T14:38:17.245447+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.561","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CERS1 was added\ngene: CERS1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CERS1 were set to 24782409; 21625621; 30800706\nPhenotypes for gene: CERS1 were set to Epilepsy, progressive myoclonic, 8 MIM#616230\nReview for gene: CERS1 was set to GREEN\nAdded comment: Two unrelated families with PME identified, and functional assays in vitro and in patient cells demonstrating impaired ceramide biosynthesis. Mouse model shows neurodegeneration and lipofuscin accumulation. \nSources: Expert list","entity_name":"CERS1","entity_type":"gene"},{"created":"2020-02-04T14:20:44.862353+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1962","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PC3 as ready","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:20:44.851839+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1962","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc3 has been classified as Red List (Low Evidence).","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:20:32.006776+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1962","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: G6PC3 were changed from  to Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:19:56.104015+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: G6PC3 were set to ","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:19:20.520931+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: G6PC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:18:35.080025+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: G6PC3 as Red List (low evidence)","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:18:35.069597+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc3 has been classified as Red List (Low Evidence).","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:17:50.883298+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: G6PC3: Rating: RED; Mode of pathogenicity: None; Publications: 20717171; Phenotypes: Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC3","entity_type":"gene"},{"created":"2020-02-04T14:10:55.252882+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30868101, 21362476, 31588715, 22388936; Phenotypes: Kufor-Rakeb syndrome MIM#606693; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2020-02-04T13:41:15.994042+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.560","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AFG3L2 was added\ngene: AFG3L2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AFG3L2 were set to 25401298; 22022284; 25927548\nPhenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246\nReview for gene: AFG3L2 was set to AMBER\nAdded comment: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant. \nSources: Expert list","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:39:36.095573+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: AFG3L2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:39:26.273230+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.; to: Currently two clear-cut reports of PME associated with biallelic variants in this gene. Two Italian patients with the same homozygous variant (found to be related through identity by decent analysis), who presented with severe progressive myoclonus at age 10 years after normal early development. Progressive myoclonic epilepsy found to be a feature of the phenotype in a consanguineous family with a homozygous variant. Family with a homozygous SETX variant and a heterozygous AFG3L2 variant with ataxia with postural/intentional myoclonus and involuntary movements, where the myoclonus phenotype appears to be segregating with the AFG3L2 variant.","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:39:15.294875+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: AFG3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:35:32.778384+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AFG3L2 as Amber List (moderate evidence)","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:35:32.766984+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: afg3l2 has been classified as Amber List (Moderate Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:35:19.765269+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25401298, 22022284, 25927548; Phenotypes: Spastic ataxia 5, autosomal recessive MIM#614487, Spinocerebellar ataxia 28 MIM#610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-02-04T13:21:58.181580+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DRC1 as ready","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:21:58.168980+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: drc1 has been classified as Green List (High Evidence).","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:21:54.662105+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DRC1 were changed from  to Ciliary dyskinesia, primary, 21, MIM# 615294","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:20:31.907549+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DRC1 were set to ","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:16:28.766222+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DRC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:16:15.196345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1239","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30553809, 28936210; Phenotypes: Gastrointestinal defects and immunodeficiency syndrome, 243150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"TTC7A","entity_type":"gene"},{"created":"2020-02-04T13:15:53.540053+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: DRC1.","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:15:39.711565+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DRC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31960620; Phenotypes: Ciliary dyskinesia, primary, 21, MIM# 615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DRC1","entity_type":"gene"},{"created":"2020-02-04T13:12:53.195731+11:00","panel_name":"Pulmonary Arterial Hypertension","panel_id":3095,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDR was added\ngene: KDR was added to Pulmonary Arterial Hypertension. Sources: Literature\nMode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDR were set to 31980491\nPhenotypes for gene: KDR were set to Pulmonary hypertension\nReview for gene: KDR was set to AMBER\nAdded comment: Two unrelated individuals with PAH and LoF variants reported; segregation evidence in one family. \nSources: Literature","entity_name":"KDR","entity_type":"gene"},{"created":"2020-02-04T12:37:45.919624+11:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Progressive Myoclonic Epilepsy_RMH to Progressive Myoclonic Epilepsy\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-04T12:01:17.960312+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOD1 as ready","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-04T12:01:17.949507+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sod1 has been classified as Green List (High Evidence).","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-04T12:01:03.371358+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOD1 were changed from  to Amyotrophic lateral sclerosis 1 (105400 AD, AR); Spastic tetraplegia and axial hypotonia, progressive (618598 AR)","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-04T12:00:29.879445+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOD1 were set to ","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-04T11:59:56.542488+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-04T11:57:43.808738+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-02-04T11:57:43.798648+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: opa1 has been classified as Green List (High Evidence).","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-02-04T11:57:29.712404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OPA1 were changed from  to Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 6168963; Behr syndrome MIM#210000, AR; Optic atrophy 1, MIM#165500; Optic atrophy plus syndrome, MIM# 125250","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-02-04T11:55:53.027874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1238","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-02-04T11:49:54.270379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASS6 as ready","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:49:54.259705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sass6 has been classified as Amber List (Moderate Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:49:18.486844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASS6 were changed from  to Microcephaly 14, primary, autosomal recessive, MIM# 616402","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:48:50.395579+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SASS6 were set to ","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:48:26.367418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1235","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:47:39.481531+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1234","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SASS6 as Amber List (moderate evidence)","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:47:39.470459+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sass6 has been classified as Amber List (Moderate Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:43:20.891576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1233","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:43:02.690081+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1233","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:43:02.679212+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1233","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: actb has been classified as Green List (High Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:42:44.499709+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1233","user_name":"Sebastian Lunke","item_type":"entity","text":"Publications for gene: ACTB were set to ","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:42:28.266752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1232","user_name":"Sebastian Lunke","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from  to Baraitser-Winter syndrome 1 243310; ACTB-related neurodevelopment disorder","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:41:45.823615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1231","user_name":"Sebastian Lunke","item_type":"entity","text":"Added comment: Comment on mode of pathogenicity: Both GoF and LoF described","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:41:45.775197+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1231","user_name":"Sebastian Lunke","item_type":"entity","text":"Mode of pathogenicity for gene: ACTB was changed from  to Other","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:41:15.357853+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1230","user_name":"Sebastian Lunke","item_type":"entity","text":"Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-02-04T11:39:02.920446+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1229","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: ELMOD2 as ready","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:39:02.909867+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1229","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: elmod2 has been classified as Red List (Low Evidence).","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:38:39.243394+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1229","user_name":"Sebastian Lunke","item_type":"entity","text":"Publications for gene: ELMOD2 were set to ","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:38:21.881510+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1228","user_name":"Sebastian Lunke","item_type":"entity","text":"Classified gene: ELMOD2 as Red List (low evidence)","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:38:21.870981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1228","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: elmod2 has been classified as Red List (Low Evidence).","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:37:42.413112+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1227","user_name":"Sebastian Lunke","item_type":"entity","text":"reviewed gene: ELMOD2: Rating: RED; Mode of pathogenicity: None; Publications: 16773575; Phenotypes: ; Mode of inheritance: Unknown","entity_name":"ELMOD2","entity_type":"gene"},{"created":"2020-02-04T11:32:25.051065+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SASS6 as ready","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:32:25.032611+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sass6 has been classified as Amber List (Moderate Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:31:04.899361+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SASS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:28:06.284374+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, MIM# 616402 to Microcephaly 14, primary, autosomal recessive, MIM# 616402","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:27:40.415089+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SASS6 were changed from  to Microcephaly 14, primary, autosomal recessive, MIM# 616402","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:27:13.659593+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SASS6 were set to ","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:24:03.418354+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SASS6 as Amber List (moderate evidence)","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:24:03.407563+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sass6 has been classified as Amber List (Moderate Evidence).","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:23:28.531356+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 24951542, 30639237; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM# 616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SASS6","entity_type":"gene"},{"created":"2020-02-04T11:03:22.362850+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1227","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: GCKR as ready","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:03:22.351639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1227","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: gckr has been classified as Red List (Low Evidence).","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:03:15.835462+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1227","user_name":"Sebastian Lunke","item_type":"entity","text":"Publications for gene: GCKR were set to ","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:02:59.285626+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1226","user_name":"Sebastian Lunke","item_type":"entity","text":"Added comment: Comment on mode of inheritance: Risk factor only","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:02:59.264419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1226","user_name":"Sebastian Lunke","item_type":"entity","text":"Mode of inheritance for gene: GCKR was changed from Unknown to Other","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:02:21.757319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1225","user_name":"Sebastian Lunke","item_type":"entity","text":"Classified gene: GCKR as Red List (low evidence)","entity_name":"GCKR","entity_type":"gene"},{"created":"2020-02-04T11:02:21.746146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1225","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: gckr has been classified as Red List (Low Evidence).","entity_name":"GCKR","entity_type":"gene"}]}