{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1860","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1858","results":[{"created":"2020-04-16T17:57:20.930228+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 20036350, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-04-16T17:55:16.284008+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM231 as ready","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:55:16.275226+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem231 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:55:13.812191+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM231 were changed from Joubert syndrome 20 to Joubert syndrome 20, MIM# 614970; Meckel syndrome 11 615397","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:55:02.015924+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM231 as Amber List (moderate evidence)","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:55:02.001882+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem231 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:54:52.281625+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 20, MIM# 614970, Meckel syndrome 11 615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-04-16T17:52:00.587702+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM237 as ready","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-04-16T17:52:00.565553+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem237 has been classified as Green List (High Evidence).","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-04-16T17:51:57.939296+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM237 were changed from Joubert syndrome 14 to Joubert syndrome 14, MIM#\t614424","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-04-16T17:51:43.649265+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 14, MIM# 614424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM237","entity_type":"gene"},{"created":"2020-04-16T17:34:01.206309+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM240 as ready","entity_name":"TMEM240","entity_type":"gene"},{"created":"2020-04-16T17:34:01.196993+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem240 has been classified as Green List (High Evidence).","entity_name":"TMEM240","entity_type":"gene"},{"created":"2020-04-16T17:33:57.318059+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM240 as Green List (high evidence)","entity_name":"TMEM240","entity_type":"gene"},{"created":"2020-04-16T17:33:57.304971+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem240 has been classified as Green List (High Evidence).","entity_name":"TMEM240","entity_type":"gene"},{"created":"2020-04-16T17:33:48.937349+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TMEM240 was added\ngene: TMEM240 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM240 were set to 25070513\nPhenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21, MIM#\t607454\nReview for gene: TMEM240 was set to GREEN\nAdded comment: At least 8 unrelated families reported. Onset in the first decades of life, including in childhood, of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients \nSources: Expert list","entity_name":"TMEM240","entity_type":"gene"},{"created":"2020-04-16T17:30:50.367236+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM67 as ready","entity_name":"TMEM67","entity_type":"gene"},{"created":"2020-04-16T17:30:50.354596+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem67 has been classified as Green List (High Evidence).","entity_name":"TMEM67","entity_type":"gene"},{"created":"2020-04-16T17:30:47.519963+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6 to Joubert syndrome 6, MIM#\t610688","entity_name":"TMEM67","entity_type":"gene"},{"created":"2020-04-16T17:30:32.186772+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 6, MIM# 610688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM67","entity_type":"gene"},{"created":"2020-04-16T17:27:00.786896+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSFM as ready","entity_name":"TSFM","entity_type":"gene"},{"created":"2020-04-16T17:27:00.761822+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsfm has been classified as Green List (High Evidence).","entity_name":"TSFM","entity_type":"gene"},{"created":"2020-04-16T17:26:54.103202+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM# 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSFM","entity_type":"gene"},{"created":"2020-04-16T17:25:53.565721+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.64","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AFG3L2 was added\ngene: AFG3L2 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: AFG3L2 were set to 20725928\nPhenotypes for gene: AFG3L2 were set to Spastic ataxia 5, autosomal recessive MIM#614487; Spinocerebellar ataxia 28 MIM#610246\nReview for gene: AFG3L2 was set to GREEN\nAdded comment: The onset of the recessive form of ataxia is usually in infancy or childhood. The dominantly inherited form of ataxia is mostly adult onset, but onset in childhood has been reported. \nSources: Expert list","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T17:25:34.251922+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTPA as ready","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-04-16T17:25:34.243132+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttpa has been classified as Green List (High Evidence).","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-04-16T17:25:30.750549+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TTPA as Green List (high evidence)","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-04-16T17:25:30.741707+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttpa has been classified as Green List (High Evidence).","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-04-16T17:25:22.448984+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TTPA was added\ngene: TTPA was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, MIM#\t277460\nReview for gene: TTPA was set to GREEN\nAdded comment: Ataxia secondary to vitamin E deficiency. Variable age of onset, but paediatric cases reported. \nSources: Expert list","entity_name":"TTPA","entity_type":"gene"},{"created":"2020-04-16T17:21:30.338639+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBA5 as ready","entity_name":"UBA5","entity_type":"gene"},{"created":"2020-04-16T17:21:30.325322+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uba5 has been classified as Amber List (Moderate Evidence).","entity_name":"UBA5","entity_type":"gene"},{"created":"2020-04-16T17:21:24.080221+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UBA5 as Amber List (moderate evidence)","entity_name":"UBA5","entity_type":"gene"},{"created":"2020-04-16T17:21:24.071358+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uba5 has been classified as Amber List (Moderate Evidence).","entity_name":"UBA5","entity_type":"gene"},{"created":"2020-04-16T17:21:13.747674+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 26872069, 27545681, 27545674; Phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UBA5","entity_type":"gene"},{"created":"2020-04-16T17:12:16.999506+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13D as ready","entity_name":"VPS13D","entity_type":"gene"},{"created":"2020-04-16T17:12:16.986098+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13d has been classified as Green List (High Evidence).","entity_name":"VPS13D","entity_type":"gene"},{"created":"2020-04-16T17:12:13.391897+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13D as Green List (high evidence)","entity_name":"VPS13D","entity_type":"gene"},{"created":"2020-04-16T17:12:13.382849+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13d has been classified as Green List (High Evidence).","entity_name":"VPS13D","entity_type":"gene"},{"created":"2020-04-16T17:12:04.144912+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS13D was added\ngene: VPS13D was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13D were set to 29604224; 29518281\nPhenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM#\t607317\nReview for gene: VPS13D was set to GREEN\nAdded comment: Seven unrelated families reported, some functional data. Age at onset is highly variable: some have onset in early childhood with delayed walking, whereas others have onset of gait difficulties in adulthood. Additional features may include dysarthria, oculomotor abnormalities, distal sensory impairment, dystonia, chorea, hypotonia, pyramidal signs, and cerebellar atrophy on brain imaging. The disorder is slowly progressive. Some individuals with onset in childhood may have global developmental delay with mild intellectual disability. \nSources: Expert list","entity_name":"VPS13D","entity_type":"gene"},{"created":"2020-04-16T17:08:10.120539+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VRK1 as ready","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T17:08:10.111005+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vrk1 has been classified as Amber List (Moderate Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T17:08:03.687113+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VRK1 were set to ","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T17:07:53.159433+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VRK1 as Amber List (moderate evidence)","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T17:07:53.150497+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vrk1 has been classified as Amber List (Moderate Evidence).","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T17:07:42.253543+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: None; Publications: 19646678, 21937992, 25609612, 24126608, 27281532; Phenotypes: Pontocerebellar hypoplasia type 1A, MIM# 607596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VRK1","entity_type":"gene"},{"created":"2020-04-16T16:54:53.800911+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ABHD12 as Green List (high evidence)","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-04-16T16:54:53.791948+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: abhd12 has been classified as Green List (High Evidence).","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-04-16T16:48:17.780426+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.55","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABHD12 was added\ngene: ABHD12 was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674\nReview for gene: ABHD12 was set to GREEN\nAdded comment: Ataxia is a prominent feature of the condition and onset is usually in childhood or adolescence. \nSources: Expert list","entity_name":"ABHD12","entity_type":"gene"},{"created":"2020-04-16T16:37:42.904666+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AAAS as Green List (high evidence)","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-04-16T16:37:42.895988+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: aaas has been classified as Green List (High Evidence).","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-04-16T16:37:26.920849+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AAAS was added\ngene: AAAS was added to Ataxia - paediatric. Sources: Expert list\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome MIM#231550\nReview for gene: AAAS was set to GREEN\nAdded comment: Ataxia is a feature of the condition and onset is usually in childhood. \nSources: Expert list","entity_name":"AAAS","entity_type":"gene"},{"created":"2020-04-16T12:34:37.507543+10:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-16T11:00:26.651194+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFN2 as ready","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T11:00:26.642525+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Green List (High Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:59:32.762604+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFN2 as ready","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:59:32.748707+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfn2 has been classified as Green List (High Evidence).","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:59:10.510738+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFN2 were changed from  to Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:58:43.161854+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:58:07.707442+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MFN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-16T10:55:44.137812+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:55:44.124033+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:55:40.997183+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from  to Optic atrophy 9, MIM# 616289; Infantile cerebellar-retinal degeneration, MIM# 614559","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:55:18.841589+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to ","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:54:51.211024+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:54:12.818513+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25351951, 22405087; Phenotypes: Optic atrophy 9, MIM# 616289, Infantile cerebellar-retinal degeneration, MIM# 614559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2020-04-16T10:49:56.786324+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WFS1 were changed from Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296 to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:48:31.605307+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WFS1 as ready","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:48:31.596888+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wfs1 has been classified as Green List (High Evidence).","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:48:05.278254+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WFS1 were changed from  to Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant 61, MIM#Wolfram syndrome 1, autosomal recessive, MIM# 222300; Wolfram-like syndrome, autosomal dominant, MIM#614296","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:46:58.899700+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WFS1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:46:29.419521+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 1, autosomal recessive, MIM# 222300, Wolfram-like syndrome, autosomal dominant 61, MIM#4296; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-16T10:44:42.684022+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SSBP1 as ready","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-04-16T10:44:42.675446+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ssbp1 has been classified as Green List (High Evidence).","entity_name":"SSBP1","entity_type":"gene"},{"created":"2020-04-16T10:38:07.662937+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBCD as ready","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:38:07.653658+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbcd has been classified as Amber List (Moderate Evidence).","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:38:04.704799+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBCD were changed from  to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:37:41.879038+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBCD were set to ","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:37:12.890653+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:36:45.260662+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBCD as Amber List (moderate evidence)","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:36:45.247654+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbcd has been classified as Amber List (Moderate Evidence).","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:36:17.133621+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. \nSources: Expert Review; to: 15 children from 9 unrelated families with bi-allelic variants in this gene and a progressive neurodegenerative encephalopathy. Optic atrophy is not a consistent or prominent feature of this disorder.\r\nSources: Expert Review","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T10:35:58.407430+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TBCD: Changed rating: AMBER","entity_name":"TBCD","entity_type":"gene"},{"created":"2020-04-16T09:58:58.136219+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AUTS2 as ready","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:58:58.123043+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Red List (Low Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:58:45.443197+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR37 as ready","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-04-16T09:58:45.429135+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr37 has been classified as Green List (High Evidence).","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-04-16T09:58:23.858480+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.87","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":"2020-04-16T09:42:18.382029+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-16T09:42:18.368248+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Green List (High Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-16T09:42:13.776570+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADGRG1 as Green List (high evidence)","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-16T09:42:13.766981+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Green List (High Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2020-04-16T09:40:37.985296+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AUTS2 were changed from Mental retardation, autosomal dominant 26, MIM# 615834 to Mental retardation, autosomal dominant 26, MIM# 615834","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:40:37.319575+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR81 as ready","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-04-16T09:40:37.305977+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Green List (High Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-04-16T09:40:18.002127+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WDR81 as Green List (high evidence)","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-04-16T09:40:17.981299+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr81 has been classified as Green List (High Evidence).","entity_name":"WDR81","entity_type":"gene"},{"created":"2020-04-16T09:39:20.150588+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR37 were changed from  to Neurooculocardiogenitourinary syndrome (MIM#618652)","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-04-16T09:39:00.245894+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AUTS2 were changed from  to Mental retardation, autosomal dominant 26, MIM# 615834","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:38:40.072197+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR37 were set to ","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-04-16T09:38:32.158928+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA8 as ready","entity_name":"CA8","entity_type":"gene"}]}