{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1766","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1764","results":[{"created":"2020-06-19T14:09:40.095383+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSF4 were set to ","entity_name":"HSF4","entity_type":"gene"},{"created":"2020-06-19T14:09:10.620347+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSF4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"HSF4","entity_type":"gene"},{"created":"2020-06-19T13:55:11.253534+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BSCL2 as Green List (high evidence)","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-06-19T13:55:11.239819+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-06-19T13:54:38.683342+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSCL2 were set to 16765570\nPhenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome MIM#270685; Neuropathy, distal hereditary motor, type VA MIM#600794\nReview for gene: BSCL2 was set to GREEN\nAdded comment: The HSP and distal HMN caused by this gene can be classified as a non-ALS MND, affecting both upper and lower motor neurons. \nSources: Expert list","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-06-19T13:41:40.046426+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATL1 as Green List (high evidence)","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-06-19T13:41:40.028949+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atl1 has been classified as Green List (High Evidence).","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-06-19T13:41:04.966069+10:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATL1 was added\ngene: ATL1 was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATL1 were set to 16765570\nPhenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant MIM#182600\nReview for gene: ATL1 was set to GREEN\nAdded comment: The HSP caused by this gene can be classified as a non-ALS MND, affecting the upper motor neurons. \nSources: Expert list","entity_name":"ATL1","entity_type":"gene"},{"created":"2020-06-19T13:00:55.983541+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-19T13:00:55.974118+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-19T13:00:52.255782+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UBTF as Green List (high evidence)","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-19T13:00:52.242649+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.68","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-19T13:00:43.897387+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.67","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UBTF was added\ngene: UBTF was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: UBTF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBTF were set to 28777933; 29300972\nPhenotypes for gene: UBTF were set to Neurodegeneration, childhood-onset, with brain atrophy MIM#617672\nMode of pathogenicity for gene: UBTF was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: UBTF was set to GREEN\nAdded comment: 7  out of 11 unrelated cases with a recurrent de novo gain of function missense variant (p.Glu210Lys) have dystonia as a feature of the condition. \nSources: Expert list","entity_name":"UBTF","entity_type":"gene"},{"created":"2020-06-19T12:48:42.772782+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3126","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FITM2 as ready","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:48:42.763644+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:48:17.996726+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3126","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FITM2 as Green List (high evidence)","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:48:17.985589+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:48:00.453414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3125","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:47:10.554279+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FITM2 as ready","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:47:10.541336+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:46:50.193952+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FITM2 as Green List (high evidence)","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:46:50.184474+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.351","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:46:08.216931+10:00","panel_name":"Deafness","panel_id":209,"panel_version":"0.350","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Deafness. Sources: Literature\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Literature","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:45:09.693150+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Three unrelated cases with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list; to: 7 cases from 3 unrelated families (2 consanguineous) with a dystonia-deafness syndrome and a supporting Drosophila model. \r\nSources: Expert list","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:40:58.065567+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FITM2 as ready","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:40:58.044625+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:40:54.463813+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FITM2 as Green List (high evidence)","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:40:54.453578+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:40:47.089972+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635; dystonia; deafness\nReview for gene: FITM2 was set to GREEN\nAdded comment: Three unrelated cases with a dystonia-deafness syndrome and a supporting Drosophila model. \nSources: Expert list","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-06-19T12:38:00.042912+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.143","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: HSF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31815953, 29243736, 26490182; Phenotypes: Cataract 5, multiple types, 116800.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"HSF4","entity_type":"gene"},{"created":"2020-06-18T21:12:28.918300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3124","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-06-18T21:12:08.165321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DALRD3: Changed phenotypes: Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 86 618910","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-06-18T21:11:49.917761+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.731","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DALRD3 were changed from Epileptic encephalopathy to Epileptic encephalopathy; Epileptic encephalopathy, early infantile, 86\t618910","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-06-18T21:11:15.748689+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DALRD3: Changed phenotypes: Epileptic encephalopathy, Epileptic encephalopathy, early infantile, 86 618910","entity_name":"DALRD3","entity_type":"gene"},{"created":"2020-06-18T20:40:01.422794+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD1L as ready","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:40:01.411500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1l has been classified as Red List (Low Evidence).","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:39:51.201374+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD1L were changed from  to CAKUT","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:39:16.664632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHD1L were set to ","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:38:56.133955+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHD1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:38:37.811874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD1L as Red List (low evidence)","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:38:37.802463+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1l has been classified as Red List (Low Evidence).","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:38:15.985591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CHD1L.","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:38:01.152718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD1L: Rating: RED; Mode of pathogenicity: None; Publications: 22146311, 24429398; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD1L","entity_type":"gene"},{"created":"2020-06-18T20:34:41.369855+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXMIF as ready","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:34:41.357373+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Green List (High Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:34:38.448243+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.730","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXMIF were changed from  to Mental retardation, X-linked 98, MIM# 300912","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:34:09.395775+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.729","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEXMIF were set to ","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:33:39.128645+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.728","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:33:05.899729+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.727","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98, MIM# 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:31:50.096391+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXMIF as ready","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:31:50.085396+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Green List (High Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:31:45.463491+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2702","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXMIF were changed from  to Mental retardation, X-linked 98, MIM# 300912","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:31:08.518892+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2701","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEXMIF were set to ","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:30:36.603884+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2700","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:29:59.631075+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2699","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:29:43.410158+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEXMIF as ready","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:29:43.397446+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nexmif has been classified as Green List (High Evidence).","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:28:15.739798+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEXMIF were changed from  to Mental retardation, X-linked 98 300912","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:27:53.468005+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3118","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEXMIF were set to ","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:27:33.428595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T20:26:43.152633+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEF2C as ready","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-06-18T20:26:43.139204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mef2c has been classified as Green List (High Evidence).","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-06-18T20:26:35.335251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MEF2C were changed from  to Chromosome 5q14.3 deletion syndrome, 613443; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-06-18T20:26:15.317738+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3115","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MEF2C was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-06-18T20:20:51.465058+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM6A as ready","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T20:20:51.454601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm6a has been classified as Green List (High Evidence).","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T20:20:42.474251+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3114","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM6A were changed from  to Kabuki syndrome 2, 300867","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T20:20:23.437141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KDM6A were set to ","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T20:20:01.788545+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3112","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KDM6A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T19:12:15.144494+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SPECC1L as ready","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-06-18T19:12:15.128667+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: specc1l has been classified as Amber List (Moderate Evidence).","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-06-18T19:12:03.126481+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SPECC1L as Amber List (moderate evidence)","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-06-18T19:12:03.112008+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: specc1l has been classified as Amber List (Moderate Evidence).","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-06-18T19:10:45.963855+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.80","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SPECC1L was added\ngene: SPECC1L was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPECC1L were set to 26111080; 30472488\nPhenotypes for gene: SPECC1L were set to Hypertelorism, Teebi type MIM#145420\nReview for gene: SPECC1L was set to AMBER\nAdded comment: Three unrelated cases reported with craniosynostosis as a feature of the condition. \nSources: Expert list","entity_name":"SPECC1L","entity_type":"gene"},{"created":"2020-06-18T18:40:23.760812+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IFT122 as ready","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-06-18T18:40:23.746425+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ift122 has been classified as Green List (High Evidence).","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-06-18T18:40:14.201439+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IFT122 as Green List (high evidence)","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-06-18T18:40:14.192605+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ift122 has been classified as Green List (High Evidence).","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-06-18T18:39:37.980839+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IFT122 was added\ngene: IFT122 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFT122 were set to 26792575; 28370949; 29037998\nPhenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1 MIM#218330\nReview for gene: IFT122 was set to GREEN\nAdded comment: Craniosynostosis has been reported as a prominent feature of the condition in greater than 10 cases. \nSources: Expert list","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-06-18T18:24:12.136519+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GLI3 as ready","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-06-18T18:24:12.122311+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gli3 has been classified as Green List (High Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-06-18T18:07:33.870651+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GLI3 as Green List (high evidence)","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-06-18T18:07:33.861645+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gli3 has been classified as Green List (High Evidence).","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-06-18T18:07:04.377498+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLI3 was added\ngene: GLI3 was added to Craniosynostosis. Sources: Expert list\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GLI3 were set to 20583172; 20570969; 21326280\nPhenotypes for gene: GLI3 were set to Metopic craniosynostosis; Greig cephalopolysyndactyly syndrome MIM#175700\nReview for gene: GLI3 was set to GREEN\nAdded comment: Metopic or sagittal synostosis has been reported as a feature of Greig cephalopolysyndactyly syndrome in at least 7 unrelated cases, and there is a supporting mouse model with craniosynostosis. \nSources: Expert list","entity_name":"GLI3","entity_type":"gene"},{"created":"2020-06-18T17:08:25.214247+10:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"0.75","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-06-18T15:50:25.714635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:27302555, 24664873; Phenotypes: Kabuki syndrome 2, 300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"KDM6A","entity_type":"gene"},{"created":"2020-06-18T15:30:46.600796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chromosome 5q14.3 deletion syndrome, 613443, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations, 613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MEF2C","entity_type":"gene"},{"created":"2020-06-18T15:29:16.611397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NEXMIF","entity_type":"gene"},{"created":"2020-06-18T09:45:43.675014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: STAG3 as ready","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:45:43.665150+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stag3 has been classified as Green List (High Evidence).","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:45:33.687810+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: STAG3 as Green List (high evidence)","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:45:33.673422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3111","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stag3 has been classified as Green List (High Evidence).","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:45:11.089087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3110","user_name":"Bryony Thompson","item_type":"entity","text":"gene: STAG3 was added\ngene: STAG3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: STAG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAG3 were set to 24597867; 26059840; 31803224; 31363903\nPhenotypes for gene: STAG3 were set to Premature ovarian failure 8 MIM#615723\nReview for gene: STAG3 was set to GREEN\nAdded comment: At least four unrelated families with ovarian failure and a supporting null mouse model. \nSources: Expert list","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:43:53.063890+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: STAG3 as ready","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:43:53.048162+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: stag3 has been classified as Green List (High Evidence).","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:43:46.441335+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: STAG3 were changed from  to Premature ovarian failure 8 MIM#615723","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:43:39.082950+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: STAG3 were set to ","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:43:26.308852+10:00","panel_name":"Amenorrhoea","panel_id":3166,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: STAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24597867, 26059840, 31803224, 31363903; Phenotypes: Premature ovarian failure 8 MIM#615723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAG3","entity_type":"gene"},{"created":"2020-06-18T09:35:07.811490+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3109","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SOHLH1 as ready","entity_name":"SOHLH1","entity_type":"gene"},{"created":"2020-06-18T09:35:07.802004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3109","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sohlh1 has been classified as Green List (High Evidence).","entity_name":"SOHLH1","entity_type":"gene"}]}