{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1878","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1876","results":[{"created":"2020-04-06T19:16:30.781459+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.54","user_name":"Bryony Thompson","item_type":"entity","text":"gene: UNC80 was added\ngene: UNC80 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNC80 were set to 26545877\nPhenotypes for gene: UNC80 were set to hypotonia; severe intellectual disability; dyskinesia; dysmorphism\nReview for gene: UNC80 was set to RED\nAdded comment: Two consanguineous Bedouin Israeli families homozygous for the same variantc.151C>T, p.(R51*) with dystonia as a feature of the condition. No other reported evidence for dystonia in the context of this condition. \nSources: Expert list","entity_name":"UNC80","entity_type":"gene"},{"created":"2020-04-06T19:08:56.555991+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2515","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF20 were changed from  to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:08:26.951513+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2514","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCF20 were set to ","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:07:58.873586+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2513","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:07:21.893563+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:06:06.254172+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCF20 as ready","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:06:06.244578+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf20 has been classified as Green List (High Evidence).","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:05:57.700728+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2026","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF20 were changed from  to Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:05:28.686593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2025","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCF20 were set to ","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:05:13.374044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2024","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCF20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T19:04:18.737675+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITGB2 as ready","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:04:18.724059+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb2 has been classified as Red List (Low Evidence).","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:04:15.422699+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGB2 were changed from  to Leukocyte adhesion deficiency (MIM# 116920)","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:03:52.674629+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:03:30.641699+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITGB2 as Red List (low evidence)","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:03:30.633166+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itgb2 has been classified as Red List (Low Evidence).","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T19:02:23.284754+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARGE1 as ready","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:02:23.271342+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Amber List (Moderate Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:02:20.179394+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARGE1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840)","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:01:50.709381+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LARGE1 were set to ","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:01:28.047025+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:00:59.858784+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARGE1 as Amber List (moderate evidence)","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T19:00:59.850132+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Amber List (Moderate Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T18:59:53.730357+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFE3 as ready","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:59:53.716617+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfe3 has been classified as Green List (High Evidence).","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:59:49.331151+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFE3 as Green List (high evidence)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:59:49.318141+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.646","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfe3 has been classified as Green List (High Evidence).","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:59:20.726148+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.645","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFE3 was added\ngene: TFE3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TFE3 were set to 30595499; 31833172\nPhenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features\nReview for gene: TFE3 was set to GREEN\nAdded comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4. \nSources: Expert list","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:58:48.566748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFE3 as ready","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:58:48.553546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfe3 has been classified as Green List (High Evidence).","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:57:50.990291+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TFE3 as ready","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:57:50.981189+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfe3 has been classified as Green List (High Evidence).","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:57:45.000274+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TFE3 as Green List (high evidence)","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:57:44.991958+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2512","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tfe3 has been classified as Green List (High Evidence).","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:57:13.511275+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2511","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TFE3 was added\ngene: TFE3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: TFE3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TFE3 were set to 30595499; 31833172\nPhenotypes for gene: TFE3 were set to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features\nReview for gene: TFE3 was set to GREEN\nAdded comment: Seven individuals reported; so far, all have been found to harbour de novo variants affecting exons 3 or 4. \nSources: Expert list","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:56:46.600007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2023","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TFE3 were changed from  to TFE3-associated neurodevelopmental disorder; Intellectual disability; Epilepsy; Coarse facial features","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:56:26.635032+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2022","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TFE3 were set to ","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:56:10.241204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2021","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TFE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:55:14.780657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TFE3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30595499, 31833172; Phenotypes: TFE3-associated neurodevelopmental disorder, Intellectual disability, Epilepsy, Coarse facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFE3","entity_type":"gene"},{"created":"2020-04-06T18:05:19.874949+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICOSLG as ready","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:05:19.861669+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: icoslg has been classified as Amber List (Moderate Evidence).","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:05:11.643532+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2020","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ICOSLG were changed from  to Combined immunodeficiency; recurrent bacterial and viral infections; neutropaenia","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:04:52.377960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2019","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ICOSLG were set to ","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:04:31.978715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2018","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ICOSLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:04:12.519649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ICOSLG as Amber List (moderate evidence)","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:04:12.506626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2017","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: icoslg has been classified as Amber List (Moderate Evidence).","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T18:03:50.138780+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2016","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ICOSLG: Rating: AMBER; Mode of pathogenicity: None; Publications: 31532372, 30498080; Phenotypes: Combined immunodeficiency, recurrent bacterial and viral infections, neutropaenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICOSLG","entity_type":"gene"},{"created":"2020-04-06T17:59:25.723228+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TREX1 as ready","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-06T17:59:25.713176+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-06T17:59:23.335238+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TREX1 as Green List (high evidence)","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-06T17:59:23.322312+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.53","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-06T17:59:11.569409+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.52","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TREX1 was added\ngene: TREX1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TREX1 were set to 20131292\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750\nReview for gene: TREX1 was set to GREEN\nAdded comment: 7 unrelated cases with dystonia as a feature of the condition, 6 biallelic and 1 de novo. \nSources: Expert list","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-06T17:52:56.116440+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TOR1AIP1: Rating: RED; Mode of pathogenicity: None; Publications: 25425325; Phenotypes: Dystonia, Cerebellar Atrophy, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2020-04-06T17:31:32.151706+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2016","user_name":"Chern Lim","item_type":"entity","text":"reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities, AD, MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF20","entity_type":"gene"},{"created":"2020-04-06T17:16:20.771389+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SYT1 as Green List (high evidence)","entity_name":"SYT1","entity_type":"gene"},{"created":"2020-04-06T17:16:20.757968+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.51","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: syt1 has been classified as Green List (High Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2020-04-06T17:16:12.580838+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.50","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SYT1 was added\ngene: SYT1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SYT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SYT1 were set to 30107533\nPhenotypes for gene: SYT1 were set to Baker-Gordon syndrome MIM#618218\nReview for gene: SYT1 was set to GREEN\nAdded comment: 4 out of 11 cases with a de novo variant had dystonia as a feature of the phenotype. \nSources: Expert list","entity_name":"SYT1","entity_type":"gene"},{"created":"2020-04-06T17:10:57.334477+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID 17436019; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6 (MIM# 613154), Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 (MIM# 608840); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-04-06T17:07:12.597305+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SUOX as Green List (high evidence)","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-04-06T17:07:12.587762+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.49","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: suox has been classified as Green List (High Evidence).","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-04-06T17:07:03.356818+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.48","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SUOX was added\ngene: SUOX was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 9600976; 28933809; 16140720\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300\nReview for gene: SUOX was set to GREEN\nAdded comment: Dystonia is a feature of late-onset isolated sulfite oxidase deficiency. At least 6 cases reported with dystonia as a feature of the condition. \nSources: Expert list","entity_name":"SUOX","entity_type":"gene"},{"created":"2020-04-06T16:44:54.743476+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: ITGB2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukocyte adhesion deficiency (MIM# 116920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGB2","entity_type":"gene"},{"created":"2020-04-06T16:44:50.091053+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SNORD118 as Green List (high evidence)","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-04-06T16:44:50.082299+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: snord118 has been classified as Green List (High Evidence).","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-04-06T16:41:36.706031+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (618571); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INTS1","entity_type":"gene"},{"created":"2020-04-06T16:40:31.644450+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SNORD118 was added\ngene: SNORD118 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SNORD118 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNORD118 were set to 27571260\nPhenotypes for gene: SNORD118 were set to Leukoencephalopathy, brain calcifications, and cysts MIM#614561\nReview for gene: SNORD118 was set to GREEN\nAdded comment: At least 6 cases/families reported with dystonia as a feature of the condition. \nSources: Expert list","entity_name":"SNORD118","entity_type":"gene"},{"created":"2020-04-06T16:32:39.021304+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: IL2RG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency, X-linked (300400), Moderate combined immunodeficiency, X-linked (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IL2RG","entity_type":"gene"},{"created":"2020-04-06T16:31:36.377644+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"Deleted their review","entity_name":"IL2RG","entity_type":"gene"},{"created":"2020-04-06T16:31:27.950455+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: IL2RG: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Severe combined immunodeficiency (X-linked) (300400), Moderate combined immunodeficiency (X-linked) (312863); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"IL2RG","entity_type":"gene"},{"created":"2020-04-06T16:27:49.349990+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.60","user_name":"Lauren Akesson","item_type":"entity","text":"reviewed gene: IL10RB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inflammatory bowel disease 25, early onset (612567); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL10RB","entity_type":"gene"},{"created":"2020-04-06T16:09:49.329524+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: SAMHD1 as Amber List (moderate evidence)","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-04-06T16:09:49.314049+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: samhd1 has been classified as Amber List (Moderate Evidence).","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-04-06T16:09:40.195975+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SAMHD1 was added\ngene: SAMHD1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMHD1 were set to 20131292\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5 MIM#612952\nReview for gene: SAMHD1 was set to AMBER\nAdded comment: Two unrelated cases reported with dystonia as a feature of the condition. \nSources: Expert list","entity_name":"SAMHD1","entity_type":"gene"},{"created":"2020-04-06T16:06:00.262976+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNASEH2C as Green List (high evidence)","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-04-06T16:06:00.248941+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnaseh2c has been classified as Green List (High Evidence).","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-04-06T16:05:50.952650+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.42","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RNASEH2C was added\ngene: RNASEH2C was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2C were set to 20131292; 23322642\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3 MIM#610329\nReview for gene: RNASEH2C was set to GREEN\nAdded comment: Three unrelated cases with dystonia as a feature of the condition. \nSources: Expert list","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2020-04-06T15:51:05.773136+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RNASEH2B as Green List (high evidence)","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-04-06T15:51:05.759724+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.41","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rnaseh2b has been classified as Green List (High Evidence).","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-04-06T15:50:55.718427+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.40","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RNASEH2B was added\ngene: RNASEH2B was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2B were set to 20131292; 26860721\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2 MIM#610181\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: 3 or 4 cases with biallelic variants (one of the publications in Spanish and unsure if both cases have dystonia) with dystonia as a feature of the condition. Two other cases with dystonia as a feature, but only a single heterozygous variant was identified. \nSources: Expert list","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2020-04-06T15:36:45.258593+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.39","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RNASEH2A was added\ngene: RNASEH2A was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2A were set to 20131292\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4 MIM#610333\nReview for gene: RNASEH2A was set to RED\nAdded comment: Single case reported with dystonia as a feature of the condition. \nSources: Expert list","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2020-04-06T15:20:31.750274+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PODXL was added\ngene: PODXL was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for gene: PODXL was set to Unknown\nPublications for gene: PODXL were set to 26864383; 20706633\nPhenotypes for gene: PODXL were set to juvenile-onset Parkinson disease\nReview for gene: PODXL was set to AMBER\nAdded comment: Single consanguineous Indian family reported with a homozygous loss of function variant. A Podxl null mouse model has aberrant neurite length and number of branching points, and also evidence of impaired synaptogenesis. Subsequent screening in 280 Parkinson disease patients with various ages of onset identified 3 heterozygous missense variants (P429T, S373N, and R294Q; all numbering according to isoform 2), absent in gnomAD. Transfection of the missense variants into PC12 cells resulted in variable aberrant neurite length and/or branching, suggesting a functional effect. However, there is more evidence supporting the association of monoallelic and biallelic variants with FSGS (see Proteinuria panel). There was no renal symptoms present in the reported family, which had renal function tests. \nSources: Literature","entity_name":"PODXL","entity_type":"gene"},{"created":"2020-04-06T14:47:53.910536+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXN1 were set to ","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-04-06T14:47:32.895155+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FOXN1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-04-06T14:47:13.607391+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-04-06T14:46:38.465787+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31447097, 18339010, 10206641; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705, T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-04-06T14:43:19.498417+10:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FOXN1 was added\ngene: FOXN1 was added to Severe Combined Immunodeficiency (absent T present B cells). Sources: Literature\nMode of inheritance for gene: FOXN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXN1 were set to 31447097\nPhenotypes for gene: FOXN1 were set to Severe T cell lymphopaenia; Low TRECs\nReview for gene: FOXN1 was set to GREEN\nAdded comment: 47 individuals reported. 21 newborns identified as part of SCID newborn screening had low levels of T cell receptor excision circles (TRECs) and T cell lymphopenia at birth. Adult individuals with heterozygous FOXN1 variants had in most cases normal CD4+ but lower than normal CD8+ cell counts. \nSources: Literature","entity_name":"FOXN1","entity_type":"gene"},{"created":"2020-04-06T14:25:34.195137+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2016","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:24:55.705955+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2015","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:24:25.571917+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2014","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:23:48.608536+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association. \nSources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.\r\n2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.\r\nSources: Expert list","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:23:28.557037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2013","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6ST: Changed publications: 28747427, 30309848, 12370259, 16041381, 31914175, 32207811; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response, Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:22:05.873848+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#\t618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response. to Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM#\t618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response; Hyper-IgE syndrome, autosomal dominant","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:21:14.281965+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL6ST were set to 28747427; 30309848; 12370259; 16041381; 31914175","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:20:18.172703+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6ST: Changed publications: 32207811, 28747427, 30309848, 12370259, 16041381, 31914175; Changed phenotypes: Hyper-IgE recurrent infection syndrome 4, autosomal recessive, MIM# 618523, Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response., Hyper-IgE syndrome, autosomal dominant; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:19:14.543061+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.38","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLP1 was added\ngene: PLP1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLP1 were set to 30046645; 19396823\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080\nReview for gene: PLP1 was set to RED\nAdded comment: Dystonia has been reported as a feature of PMD in two cases/families. It does not appear to be a prominent feature of the condition. \nSources: Expert list","entity_name":"PLP1","entity_type":"gene"},{"created":"2020-04-06T14:18:52.864578+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T14:18:01.900483+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association. \nSources: Expert list; to: Also known as gp130. Two families with bi-allelic missense variants and immunological phenotype described initially. More recently, five individuals from three families reported with a more complex Stuve-Wiedemann-like phenotype reported, including skeletal dysplasia and neonatal lung dysfunction with additional features such as congenital thrombocytopenia, eczematoid dermatitis, renal abnormalities, and defective acute-phase response. These three families had bi-allelic LoF variants (nonsense and canonical splice site). Several mouse models support gene-disease association.\r\n2020: 12 individuals from 8 unrelated families with seven different mono-allelic truncating variants, dominant negative effect proposed.\r\nSources: Expert list","entity_name":"IL6ST","entity_type":"gene"},{"created":"2020-04-06T13:59:45.084078+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PDHA1 as ready","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-06T13:59:45.071560+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-06T13:59:36.735674+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PDHA1 as Green List (high evidence)","entity_name":"PDHA1","entity_type":"gene"}]}