{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1938","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1936","results":[{"created":"2020-02-06T20:20:26.586851+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MATR3 as ready","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:20:26.562669+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: matr3 has been classified as Amber List (Moderate Evidence).","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:19:26.045154+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.29","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MATR3 were changed from  to Amyotrophic lateral sclerosis 21 MIM#606070","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:17:45.114497+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:16:29.842100+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PARK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARK7","entity_type":"gene"},{"created":"2020-02-06T20:13:06.582533+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: LRRK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"LRRK2","entity_type":"gene"},{"created":"2020-02-06T20:09:55.285460+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TAF15 as Amber List (moderate evidence)","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-02-06T20:09:55.261376+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: taf15 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-02-06T20:08:32.519325+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNF216 as Green List (high evidence)","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:08:32.508409+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnf216 has been classified as Green List (High Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:08:07.417258+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNF216 as Green List (high evidence)","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:08:07.406218+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnf216 has been classified as Green List (High Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:07:47.073318+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RNF216 as ready","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:07:47.059302+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnf216 has been classified as Red List (Low Evidence).","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T20:07:09.318753+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CP as Green List (high evidence)","entity_name":"CP","entity_type":"gene"},{"created":"2020-02-06T20:07:09.294958+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cp has been classified as Green List (High Evidence).","entity_name":"CP","entity_type":"gene"},{"created":"2020-02-06T20:05:03.924639+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MATR3 as Amber List (moderate evidence)","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:05:03.914090+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: matr3 has been classified as Amber List (Moderate Evidence).","entity_name":"MATR3","entity_type":"gene"},{"created":"2020-02-06T20:02:25.947872+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GCH1 as Red List (low evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-02-06T20:02:25.937081+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gch1 has been classified as Red List (Low Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-02-06T20:01:02.460428+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FIG4 as Red List (low evidence)","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-02-06T20:01:02.455336+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: ALS-FTD not a prominent phenotype","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-02-06T20:01:02.428290+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fig4 has been classified as Red List (Low Evidence).","entity_name":"FIG4","entity_type":"gene"},{"created":"2020-02-06T19:59:05.030451+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-02-06T19:59:05.018734+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp7b has been classified as Red List (Low Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-02-06T19:57:18.881861+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP7B as Red List (low evidence)","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-02-06T19:57:18.871092+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp7b has been classified as Red List (Low Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-02-06T19:54:49.562374+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANG as Red List (low evidence)","entity_name":"ANG","entity_type":"gene"},{"created":"2020-02-06T19:54:49.557447+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Not a prominent ALS-FTD phenotype","entity_name":"ANG","entity_type":"gene"},{"created":"2020-02-06T19:54:49.530837+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ang has been classified as Red List (Low Evidence).","entity_name":"ANG","entity_type":"gene"},{"created":"2020-02-06T19:11:29.417838+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR45 as Green List (high evidence)","entity_name":"WDR45","entity_type":"gene"},{"created":"2020-02-06T19:11:29.394275+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr45 has been classified as Green List (High Evidence).","entity_name":"WDR45","entity_type":"gene"},{"created":"2020-02-06T19:10:40.790919+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \nSources: Expert list; to: De novo variants identified in 5 female cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \r\nSources: Expert list","entity_name":"WDR45","entity_type":"gene"},{"created":"2020-02-06T19:09:59.059303+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR45 was added\ngene: WDR45 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: WDR45 were set to 23435086\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 MIM#300894\nReview for gene: WDR45 was set to GREEN\nAdded comment: De novo variants identified in 5 cases with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), which included dementia as a feature. \nSources: Expert list","entity_name":"WDR45","entity_type":"gene"},{"created":"2020-02-06T19:02:17.354560+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 31686421, 22105352; Phenotypes: {Parkinson disease 17} MIM#614203; Mode of inheritance: None","entity_name":"VPS35","entity_type":"gene"},{"created":"2020-02-06T18:43:04.178074+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.595","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. \nSources: Literature; to: Epilepsy has been reported as a symptom at onset of the condition in at least 8 unrelated cases. \r\nSources: Literature","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T18:39:27.017464+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.595","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VPS13A was added\ngene: VPS13A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13A were set to 26813249; 30140251; 31192303\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis MIM#200150\nReview for gene: VPS13A was set to GREEN\nAdded comment: Epilepsy has been reported as a symptom at onset of the condition in >3 unrelated cases. \nSources: Literature","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T18:32:00.788533+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26813249, 15824261, 30140251, 31192303; Phenotypes: Choreoacanthocytosis MIM#200150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13A","entity_type":"gene"},{"created":"2020-02-06T18:18:17.272700+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: VAPB as Red List (low evidence)","entity_name":"VAPB","entity_type":"gene"},{"created":"2020-02-06T18:18:17.261972+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vapb has been classified as Red List (Low Evidence).","entity_name":"VAPB","entity_type":"gene"},{"created":"2020-02-06T18:17:40.546531+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: VAPB: Rating: RED; Mode of pathogenicity: None; Publications: 31873036, 31089860; Phenotypes: Amyotrophic lateral sclerosis 8 MIM#608627, Spinal muscular atrophy, late-onset, Finkel type MIM#182980; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"VAPB","entity_type":"gene"},{"created":"2020-02-06T18:04:47.548371+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: UCHL1 as Red List (low evidence)","entity_name":"UCHL1","entity_type":"gene"},{"created":"2020-02-06T18:04:47.537808+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: uchl1 has been classified as Red List (Low Evidence).","entity_name":"UCHL1","entity_type":"gene"},{"created":"2020-02-06T18:04:09.609738+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: 27231703, 15297154; Phenotypes: Spastic paraplegia 79, autosomal recessive MIM#615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UCHL1","entity_type":"gene"},{"created":"2020-02-06T17:48:08.986028+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TH as Red List (low evidence)","entity_name":"TH","entity_type":"gene"},{"created":"2020-02-06T17:48:08.975250+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: th has been classified as Red List (Low Evidence).","entity_name":"TH","entity_type":"gene"},{"created":"2020-02-06T17:47:30.216206+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Segawa syndrome, recessive MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TH","entity_type":"gene"},{"created":"2020-02-06T17:41:50.538208+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.12","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TAF15 was added\ngene: TAF15 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: TAF15 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TAF15 were set to 28889094\nPhenotypes for gene: TAF15 were set to Amyotrophic lateral sclerosis; Frontotemporal dementia\nReview for gene: TAF15 was set to AMBER\nAdded comment: Two missense variants identified in two unrelated cases with a similar phenotype which included low motor neuron predominant signs, behavioural variant FTD and movement disorders, and in one patient, neuropathology showed a frontotemporal lobar degeneration pattern. \nSources: Expert list","entity_name":"TAF15","entity_type":"gene"},{"created":"2020-02-06T17:24:07.588353+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27318863, 28237315, 18079167; Phenotypes: Spastic paraplegia 11, autosomal recessive MIM#604360, Charcot-Marie-Tooth disease, axonal, type 2X MIM#616668, Amyotrophic lateral sclerosis 5, juvenile MIM#602099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPG11","entity_type":"gene"},{"created":"2020-02-06T17:17:35.198598+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SPART as Red List (low evidence)","entity_name":"SPART","entity_type":"gene"},{"created":"2020-02-06T17:17:35.187712+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: spart has been classified as Red List (Low Evidence).","entity_name":"SPART","entity_type":"gene"},{"created":"2020-02-06T17:17:06.298747+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to 24715439; 20691407; 31209962","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:17:04.507748+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC4 as ready","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:17:04.422371+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:16:38.324780+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SPART: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Troyer syndrome MIM#275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPART","entity_type":"gene"},{"created":"2020-02-06T17:16:36.921050+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:16:10.800969+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from  to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:15:45.164911+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to ","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:15:16.152920+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:14:47.773189+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC4 as Amber List (moderate evidence)","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:14:47.762562+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:14:10.105986+11:00","panel_name":"Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy","panel_id":161,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:13:13.931587+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC4 as ready","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:13:13.920541+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:13:02.861996+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2001","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:12:26.541159+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2000","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from  to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:11:52.364904+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to ","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:11:34.091728+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SOD1 as Red List (low evidence)","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-06T17:11:34.080012+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.10","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: sod1 has been classified as Red List (Low Evidence).","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-06T17:11:25.619199+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1999","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:10:43.809892+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SOD1: Rating: RED; Mode of pathogenicity: None; Publications: 19252762, 20577002; Phenotypes: Amyotrophic lateral sclerosis 1 MIM#105400, Spastic tetraplegia and axial hypotonia, progressive MIM#618598; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SOD1","entity_type":"gene"},{"created":"2020-02-06T17:09:11.935258+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC4 as Amber List (moderate evidence)","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:09:11.924710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1998","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:08:07.927953+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC4 as ready","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:08:07.917052+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Red List (Low Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:08:00.285300+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from  to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:07:25.182116+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to ","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:06:52.872241+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:06:03.869380+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC4 as Red List (low evidence)","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:06:03.858632+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Red List (Low Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:05:10.079612+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HDAC4: Rating: RED; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:03:54.512444+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).; to: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only two reports of intragenic variants (still structural rather than SNVs).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:03:45.141118+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1997","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HDAC4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24715439, 20691407, 31209962; Phenotypes: Brachydactyly mental retardation syndrome, Brachydactyly without intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:02:52.228326+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SETX as Red List (low evidence)","entity_name":"SETX","entity_type":"gene"},{"created":"2020-02-06T17:02:52.217851+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.9","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: setx has been classified as Red List (Low Evidence).","entity_name":"SETX","entity_type":"gene"},{"created":"2020-02-06T17:02:15.297268+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: SETX: Rating: RED; Mode of pathogenicity: None; Publications: 24694197; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile MIM#602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SETX","entity_type":"gene"},{"created":"2020-02-06T17:00:23.682504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HDAC4 as ready","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:00:23.677630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Contradictory evidence: deletions linked to brachydactyly-MR but note some individuals reported without MR. Only reports of intragenic variants (still structural rather than SNVs).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T17:00:23.638701+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:58:28.277822+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RNF216 was added\ngene: RNF216 was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNF216 were set to 23656588; 25841028; 27995769\nPhenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840\nReview for gene: RNF216 was set to GREEN\nAdded comment: At least 3 families reported with dementia as a feature of the condition. Mouse model has deficits in spatial learning and memory. \nSources: Expert list","entity_name":"RNF216","entity_type":"gene"},{"created":"2020-02-06T16:58:19.362930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HDAC4 were changed from  to Brachydactyly mental retardation syndrome; Brachydactyly without intellectual disability","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:57:57.583628+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1270","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HDAC4 was changed from  to Other","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:57:36.489630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1269","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HDAC4 were set to ","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:57:07.305359+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1268","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HDAC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:56:57.299895+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HDAC4 as Amber List (moderate evidence)","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:56:57.289020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1267","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hdac4 has been classified as Amber List (Moderate Evidence).","entity_name":"HDAC4","entity_type":"gene"},{"created":"2020-02-06T16:45:59.611641+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: PRKN: Changed rating: GREEN","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T16:45:47.409216+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PRKN: Rating: ; Mode of pathogenicity: None; Publications: 29644727; Phenotypes: Parkinson disease, juvenile, type 2 MIM#600116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRKN","entity_type":"gene"},{"created":"2020-02-06T16:40:50.993985+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29644727, 15955953; Phenotypes: Parkinson disease 6, early onset MIM#605909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PINK1","entity_type":"gene"},{"created":"2020-02-06T16:38:03.775003+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: None; Publications: 16240358, 27085187, 29644727; Phenotypes: Parkinson disease 7, autosomal recessive early-onset MIM#606324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PARK7","entity_type":"gene"}]}