{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1504","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1502","results":[{"created":"2020-11-13T20:08:53.339480+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B4GALT7 were changed from  to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:07:59.704993+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3192","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B4GALT7 were set to ","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:07:27.740231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3191","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:06:56.278007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3190","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31278392, 31614862, 31862401; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:04:30.995680+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B4GALT7 as ready","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:04:30.985243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b4galt7 has been classified as Green List (High Evidence).","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:04:23.477494+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B4GALT7 were changed from  to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:04:02.801527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B4GALT7 were set to ","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:03:24.726216+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:03:08.263087+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5362","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: B4GALT7.","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T20:02:52.313001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5362","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T19:01:36.663486+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX6 as ready","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T19:01:36.652420+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx6 has been classified as Green List (High Evidence).","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T19:01:33.618525+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX6 were changed from  to Spondylocostal dysostosis 5, 122600","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T19:00:21.108797+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX6 were set to ","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:59:53.629353+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:59:24.983162+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 8954725, 20503311, 23335591, 25564734, 31015262, 30307510, 31015262; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:59:00.493406+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5362","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX6 were changed from Skeletal dysplasia; spondylocostal dysostosis; congenital scoliosis to Spondylocostal dysostosis 5, 122600","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:57:11.975273+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBX6 as ready","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:57:11.964323+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbx6 has been classified as Green List (High Evidence).","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:57:09.114730+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5\t122600; Spondylocostal dysostosis 5 122600 to Spondylocostal dysostosis 5\t122600","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:56:45.083432+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBX6 were set to ","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:56:16.343002+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:55:45.875628+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 33058178, 31015262, 30636772, 28054739, 23335591, 30307510; Phenotypes: Spondylocostal dysostosis 5, 122600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBX6","entity_type":"gene"},{"created":"2020-11-13T18:41:19.881162+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ2 as ready","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:41:19.869187+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq2 has been classified as Green List (High Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:41:16.625216+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ2 were changed from  to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:40:46.194654+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.901","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ2 were set to ","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:40:15.613197+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.900","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNQ2 was changed from  to Other","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:39:43.518065+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.899","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:39:03.028900+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.898","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:33:50.241028+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5361","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KCNQ2: Changed rating: GREEN","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:33:17.421136+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5361","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ2 as ready","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:33:17.406014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq2 has been classified as Green List (High Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:33:10.378019+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5361","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ2 were changed from  to Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:32:48.558857+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5360","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNQ2 were set to ","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:32:20.602139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5359","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KCNQ2 was changed from  to Other","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T18:32:03.739237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5358","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNQ2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T14:41:00.858831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 25959266, 32917465, 24318194; Phenotypes: Epileptic encephalopathy, early infantile, 7, 613720, Seizures, benign neonatal, 1, 121200, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2020-11-13T14:28:55.848667+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070; Phenotypes: PMID: 31278392, 31614862, 31862401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2020-11-13T14:27:23.173386+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5357","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FGFR1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 18034870, 23812909, 26942290; Phenotypes: Encephalocraniocutaneous lipomatosis, somatic mosaic 613001, Hartsfield syndrome 615465, Hypogonadotropic hypogonadism 2 with or without anosmia 147950, Jackson-Weiss syndrome 123150, Osteoglophonic dysplasia 166250, Pfeiffer syndrome 101600, Trigonocephaly 1 190440; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"FGFR1","entity_type":"gene"},{"created":"2020-11-13T08:57:29.296608+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: LIFR as ready","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-11-13T08:57:29.284960+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Gene: lifr has been classified as Green List (High Evidence).","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-11-13T08:57:15.642613+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: LIFR as Green List (high evidence)","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-11-13T08:57:15.631472+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.42","user_name":"Alison Yeung","item_type":"entity","text":"Gene: lifr has been classified as Green List (High Evidence).","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-11-13T08:56:47.542261+11:00","panel_name":"Autonomic neuropathy","panel_id":3439,"panel_version":"0.41","user_name":"Alison Yeung","item_type":"entity","text":"gene: LIFR was added\ngene: LIFR was added to Autonomic neuropathy. Sources: Literature\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to OMIM# 601559 STUVE-WIEDEMANN SYNDROME; STWS\ngene: LIFR was marked as current diagnostic\nAdded comment: Dysautonomia a common feature \nSources: Literature","entity_name":"LIFR","entity_type":"gene"},{"created":"2020-11-12T18:58:40.526821+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF1A as ready","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-11-12T18:58:40.518237+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-11-12T18:58:36.310016+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF1A as Green List (high evidence)","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-11-12T18:58:36.300188+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif1a has been classified as Green List (High Evidence).","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-11-12T18:58:08.661833+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF1A was added\ngene: KIF1A was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF1A were set to 31512412; 32652677\nPhenotypes for gene: KIF1A were set to NESCAV syndrome, MIM#\t614255; Rett-like syndrome\nReview for gene: KIF1A was set to GREEN\nAdded comment: Individuals identified in Rett and Rett-like cohorts. \nSources: Literature","entity_name":"KIF1A","entity_type":"gene"},{"created":"2020-11-12T18:10:39.460351+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSC1 as ready","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:10:39.452202+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsc1 has been classified as Green List (High Evidence).","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:10:35.680833+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSC1 were changed from  to Tuberous sclerosis-1, 191100; Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:09:46.466218+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSC1 were set to 32917966","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:09:24.044977+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSC1 were set to ","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:08:53.041585+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T18:08:25.473084+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: TSC1.","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T16:36:53.992926+11:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.23","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32917966; Phenotypes: Tuberous sclerosis-1, 191100, Autosomal dominant Focal cortical dysplasia, type II, somatic, 607341, Lymphangioleiomyomatosis, 606690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TSC1","entity_type":"gene"},{"created":"2020-11-12T14:45:40.713524+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.47","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: NHS: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; 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":"NHS","entity_type":"gene"},{"created":"2020-11-12T14:43:14.572784+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.47","user_name":"Sarah Righetti","item_type":"entity","text":"reviewed gene: COL4A5: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; 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":"COL4A5","entity_type":"gene"},{"created":"2020-11-12T12:52:33.923244+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRNA1 as ready","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-11-12T12:52:33.914850+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-11-12T12:52:25.050251+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHRNA1 as Green List (high evidence)","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-11-12T12:52:25.039724+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrna1 has been classified as Green List (High Evidence).","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-11-12T12:52:15.129349+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNA1 was added\ngene: CHRNA1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHRNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHRNA1 were set to Myasthenic syndrome, congenital, 1A, slow-channel, MIM#\t601462\nReview for gene: CHRNA1 was set to GREEN\nAdded comment: Ophthalmoplegia is a feature of this condition. \nSources: Expert list","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-11-12T12:50:29.456270+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-12T12:50:29.445409+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-12T12:50:26.255608+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-12T12:50:01.386322+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FKRP as Green List (high evidence)","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-12T12:50:01.375639+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-12T09:24:33.908249+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.87","user_name":"Elena Savva","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKRP were set to PMID: 32914449\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153\nReview for gene: FKRP was set to GREEN\nAdded comment: PMID: 32914449 - reviewed 56 patients w/ LGMD R9 and biallelic FKRP mutations. Dilated cardiomyopathy detected in 45% of patients with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other genotypes. \nSources: Literature","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-11-11T18:38:36.840902+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHAT as ready","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-11-11T18:38:36.831016+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chat has been classified as Green List (High Evidence).","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-11-11T18:38:31.584865+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHAT as Green List (high evidence)","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-11-11T18:38:31.574179+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chat has been classified as Green List (High Evidence).","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-11-11T18:38:21.592143+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHAT was added\ngene: CHAT was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, MIM#\t254210\nReview for gene: CHAT was set to GREEN\nAdded comment: Ophthalmoparesis and strabismus are a feature. \nSources: Expert list","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-11-11T18:35:50.956476+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OPA1 as ready","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-11-11T18:35:50.941965+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.43","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":"2020-11-11T18:35:43.826408+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OPA1 as Green List (high evidence)","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-11-11T18:35:43.813710+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.43","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":"2020-11-11T18:35:34.001116+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OPA1 was added\ngene: OPA1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM#\t125250\nReview for gene: OPA1 was set to GREEN\nAdded comment: Childhood onset disorder, characterised by optic atrophy, but progressive external ophthalmoplegia can be a feature. \nSources: Expert list","entity_name":"OPA1","entity_type":"gene"},{"created":"2020-11-11T18:24:21.550868+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIEZO2 as ready","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-11-11T18:24:21.536988+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piezo2 has been classified as Green List (High Evidence).","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-11-11T18:24:17.887773+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIEZO2 as Green List (high evidence)","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-11-11T18:24:17.874579+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piezo2 has been classified as Green List (High Evidence).","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-11-11T18:24:08.266579+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PIEZO2 was added\ngene: PIEZO2 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5, MIM#\t108145; Arthrogryposis, distal, type 3, MIM#\t114300\nReview for gene: PIEZO2 was set to GREEN\nAdded comment: Ophthalmoplegia is an associated feature. \nSources: Expert list","entity_name":"PIEZO2","entity_type":"gene"},{"created":"2020-11-11T18:18:38.342315+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFS1 as ready","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-11-11T18:18:38.330979+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufs1 has been classified as Green List (High Evidence).","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-11-11T18:18:34.384735+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFS1 as Green List (high evidence)","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-11-11T18:18:34.373403+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufs1 has been classified as Green List (High Evidence).","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-11-11T18:18:24.644075+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDUFS1 was added\ngene: NDUFS1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, nuclear type 5, MIM#\t618226\nReview for gene: NDUFS1 was set to GREEN\nAdded comment: Nystagmus, strabismus and ophthalmoplegia are features. \nSources: Expert list","entity_name":"NDUFS1","entity_type":"gene"},{"created":"2020-11-11T18:05:45.183134+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MGME1 as ready","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-11-11T18:05:45.173388+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgme1 has been classified as Green List (High Evidence).","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-11-11T18:05:40.691161+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MGME1 as Green List (high evidence)","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-11-11T18:05:40.680044+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mgme1 has been classified as Green List (High Evidence).","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-11-11T18:05:30.941757+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGME1 was added\ngene: MGME1 was added to Congenital ophthalmoplegia. Sources: Expert list\nMode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, MIM#615084\nReview for gene: MGME1 was set to GREEN\nAdded comment: Onset in the first decade, and progressive external ophthalmoplegia is a prominent feature. \nSources: Expert list","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-11-11T17:48:51.365705+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-11-11T17:48:51.357952+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2020-11-11T17:48:44.026935+11:00","panel_name":"Congenital ophthalmoplegia","panel_id":3379,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC9A6 as Green List (high evidence)","entity_name":"SLC9A6","entity_type":"gene"}]}