{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1154","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1152","results":[{"created":"2021-10-28T18:42:48.681137+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9512","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACADVL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:42:31.705728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9511","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:41:51.468786+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADVL as ready","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:41:51.457930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadvl has been classified as Green List (High Evidence).","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:41:47.574767+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADVL were changed from VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY to VLCAD deficiency, MIM# 201475","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T18:41:30.268501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACADVL","entity_type":"gene"},{"created":"2021-10-28T12:24:08.694096+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-10-28T12:23:53.204176+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-10-28T12:23:12.941948+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MITF as ready","entity_name":"MITF","entity_type":"gene"},{"created":"2021-10-28T12:23:12.930909+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mitf has been classified as Red List (Low Evidence).","entity_name":"MITF","entity_type":"gene"},{"created":"2021-10-28T12:23:10.867514+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MITF were changed from Waardenburg Syndrome Type 2 with Ocular Albinism (WS2-OA); Tietz Syndrome (TIETZS), Waardenburg Syndrome Type 2A (WS2A); Waardenburg syndrome/ocular albinism, digenic,103470 to Tietz albinism-deafness syndrome 103500","entity_name":"MITF","entity_type":"gene"},{"created":"2021-10-28T12:22:45.906296+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MITF","entity_type":"gene"},{"created":"2021-10-28T12:22:36.996790+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MITF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Tietz albinism-deafness syndrome 103500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MITF","entity_type":"gene"},{"created":"2021-10-28T12:21:06.117688+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITM2B as ready","entity_name":"ITM2B","entity_type":"gene"},{"created":"2021-10-28T12:21:06.106975+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itm2b has been classified as Red List (Low Evidence).","entity_name":"ITM2B","entity_type":"gene"},{"created":"2021-10-28T12:21:03.902035+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITM2B were changed from ?Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079 to Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities MIM#616079","entity_name":"ITM2B","entity_type":"gene"},{"created":"2021-10-28T12:20:59.093458+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITM2B were set to ","entity_name":"ITM2B","entity_type":"gene"},{"created":"2021-10-28T12:20:48.895212+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ITM2B","entity_type":"gene"},{"created":"2021-10-28T12:19:43.586971+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAI3 as ready","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-28T12:19:43.576468+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai3 has been classified as Red List (Low Evidence).","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-28T12:19:30.064207+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAI3 were changed from Auriculocondylar syndrome 1 602483; Ocular Albinism to Ocular albinism","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-28T12:19:09.770770+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-28T12:19:00.975461+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNAI3: Rating: RED; Mode of pathogenicity: None; Publications: 27607449; Phenotypes: Ocular albinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-10-28T12:15:32.761920+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DGUOK as ready","entity_name":"DGUOK","entity_type":"gene"},{"created":"2021-10-28T12:15:32.747591+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dguok has been classified as Red List (Low Evidence).","entity_name":"DGUOK","entity_type":"gene"},{"created":"2021-10-28T12:15:29.231748+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880","entity_name":"DGUOK","entity_type":"gene"},{"created":"2021-10-28T12:15:14.408685+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DGUOK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DGUOK","entity_type":"gene"},{"created":"2021-10-28T11:00:23.265870+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4223","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T10:59:42.509803+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4222","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T10:59:22.420385+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1369","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T10:58:39.139538+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1368","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T10:57:54.352447+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9511","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFE3 were changed from TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066; Intellectual disability; Epilepsy; Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T10:57:25.279706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9510","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TFE3: Changed phenotypes: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, MIM# 301066, Intellectual disability, Epilepsy, Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2021-10-28T08:43:28.088980+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9510","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAN1 as ready","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:43:28.079200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9510","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fan1 has been classified as Green List (High Evidence).","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:43:18.784893+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9510","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAN1 were changed from  to Interstitial nephritis, karyomegalic, MIM# 614817","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:43:01.488475+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAN1 were set to ","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:42:38.253921+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:42:04.115128+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9509","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAN1 were set to ","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:42:03.696037+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAN1: Changed publications: 22772369, 16678356, 7847351, 8546134","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:41:39.134646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9508","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:41:15.137464+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FAN1: Changed phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:41:02.766436+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Phenotypic overlap. \nSources: Expert Review; to: Phenotypic overlap.\r\n\r\nWell established gene-disease association. Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei.\r\nSources: Expert Review","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:40:26.020223+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAN1 were changed from Interstitial nephritis, karyomegalic to Interstitial nephritis, karyomegalic, MIM# 614817","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:39:49.355701+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: FAN1: Karyomegalic tubulointerstitial nephritis (KMIN) is a rare kidney disease characterized clinically by onset in the third decade of progressive renal failure. Renal biopsy shows chronic tubulointerstitial nephritis and interstitial fibrosis associated with enlarged and atypical tubular epithelial cell nuclei","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:39:43.695608+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9507","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22772369, 16678356, 7847351, 8546134; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-28T08:38:35.783754+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Interstitial nephritis, karyomegalic, MIM# 614817; Mode of inheritance: None","entity_name":"FAN1","entity_type":"gene"},{"created":"2021-10-27T18:49:43.577952+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5A as ready","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-27T18:49:43.564239+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5a has been classified as Amber List (Moderate Evidence).","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-27T18:49:41.673750+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO5A were changed from Griscelli syndrome, type 1 214450 AR to Griscelli syndrome, type 1, MIM# 214450","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-27T18:49:32.898132+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO5A were set to ","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-27T18:49:23.140869+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 32275080, 33981514, 22711375; Phenotypes: Griscelli syndrome, type 1, MIM# 214450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5A","entity_type":"gene"},{"created":"2021-10-27T18:45:42.931304+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MLPH as ready","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:45:42.919832+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlph has been classified as Red List (Low Evidence).","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:45:41.077761+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MLPH were changed from Griscelli syndrome, type 3 609227 AR to Griscelli syndrome, type 3, MIM# 609227","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:45:30.280416+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MLPH as Red List (low evidence)","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:45:30.270290+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mlph has been classified as Red List (Low Evidence).","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:45:23.078204+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MLPH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MLPH","entity_type":"gene"},{"created":"2021-10-27T18:44:08.475538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9507","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MANBA were changed from Mannosidosis, beta, MIM# 248510; MONDO:0009562 to Mannosidosis, beta, MIM# 248510; MONDO:0009562; Nystagmus, autosomal dominant","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:43:51.252050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9506","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MANBA were set to ","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:43:27.967295+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9505","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:43:10.381065+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9504","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variable severity. Well established gene-disease association.; to: Bi-allelic variants and lysosomal storage disorder: Variable severity. Well established gene-disease association.","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:42:52.832646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9504","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; to: Two mono-allelic variants reported in association with isolated nystagmus. ","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:42:39.263306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9504","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MANBA: Added comment: Two mono-allelic variants reported in association with isolated nystagmus. Note bi-allelic variants cause a lysosomal storage disorder.; Changed publications: 30552791, 25741867; Changed phenotypes: Mannosidosis, beta, MIM# 248510, MONDO:0009562, Nystagmus, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:40.910444+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MANBA as ready","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:40.899967+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: manba has been classified as Amber List (Moderate Evidence).","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:38.502199+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MANBA were changed from Mannosidosis, beta 248510 AR to Nystagmus, autosomal dominant","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:27.779664+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MANBA were set to ","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:20.953526+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MANBA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T18:41:11.896848+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: None; Publications: 30552791, 25741867; Phenotypes: Nystagmus, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MANBA","entity_type":"gene"},{"created":"2021-10-27T17:26:45.597895+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMA1 as ready","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-10-27T17:26:45.589117+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-10-27T17:26:40.490203+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMA1 as Green List (high evidence)","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-10-27T17:26:40.479781+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lama1 has been classified as Green List (High Evidence).","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-10-27T17:26:33.460159+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Poretti-Boltshauser syndrome, MIM# 615960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMA1","entity_type":"gene"},{"created":"2021-10-27T17:25:01.655562+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DTNBP1 as ready","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:25:01.646017+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dtnbp1 has been classified as Green List (High Evidence).","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:24:59.496900+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DTNBP1 were changed from Hermansky-Pudlak syndrome 7 614076 AR to Hermansky-Pudlak syndrome 7, MIM# 614076; MONDO:0013559","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:24:50.998048+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DTNBP1 were set to ","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:24:41.038470+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DTNBP1 as Green List (high evidence)","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:24:41.029269+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dtnbp1 has been classified as Green List (High Evidence).","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2021-10-27T17:24:20.643112+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCT as ready","entity_name":"DCT","entity_type":"gene"},{"created":"2021-10-27T17:24:20.634361+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dct has been classified as Green List (High Evidence).","entity_name":"DCT","entity_type":"gene"},{"created":"2021-10-27T17:24:18.674586+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCT were changed from Ocutaneous albinism to Oculocutaneous albinism, type VIII, MIM# 619165","entity_name":"DCT","entity_type":"gene"},{"created":"2021-10-27T17:24:09.696406+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DCT as Green List (high evidence)","entity_name":"DCT","entity_type":"gene"},{"created":"2021-10-27T17:24:09.685669+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dct has been classified as Green List (High Evidence).","entity_name":"DCT","entity_type":"gene"},{"created":"2021-10-27T17:23:50.113073+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S6 as ready","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2021-10-27T17:23:50.103176+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s6 has been classified as Amber List (Moderate Evidence).","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2021-10-27T17:23:48.547750+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BLOC1S6 were changed from ?Hermansky-pudlak syndrome 9 614171 AR to Hermansky-Pudlak syndrome 9, MIM# 614171","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2021-10-27T17:23:40.297798+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BLOC1S6 were set to ","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2021-10-27T17:23:15.421822+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S5 as ready","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-10-27T17:23:15.410640+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-10-27T17:23:12.707667+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S5 as Green List (high evidence)","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-10-27T17:23:12.696830+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s5 has been classified as Green List (High Evidence).","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2021-10-27T17:22:53.823516+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BLOC1S3 as ready","entity_name":"BLOC1S3","entity_type":"gene"},{"created":"2021-10-27T17:22:53.813493+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s3 has been classified as Green List (High Evidence).","entity_name":"BLOC1S3","entity_type":"gene"},{"created":"2021-10-27T17:22:50.844860+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S3 as Green List (high evidence)","entity_name":"BLOC1S3","entity_type":"gene"},{"created":"2021-10-27T17:22:50.833897+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s3 has been classified as Green List (High Evidence).","entity_name":"BLOC1S3","entity_type":"gene"},{"created":"2021-10-27T17:22:23.503079+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP3D1 as ready","entity_name":"AP3D1","entity_type":"gene"},{"created":"2021-10-27T17:22:23.492110+11:00","panel_name":"Congenital nystagmus","panel_id":3762,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap3d1 has been classified as Red List (Low Evidence).","entity_name":"AP3D1","entity_type":"gene"}]}