{"count":221385,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1823","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1821","results":[{"created":"2020-04-22T17:52:03.814622+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:51:02.146939+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27090768, 28039521; Phenotypes: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277, paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:49:49.914638+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ECHS1 as Green List (high evidence)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:49:49.904068+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:49:12.887525+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHA1 as ready","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:49:12.878578+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:49:10.068978+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHA1 were changed from Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy. to Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170; Paroxysmal dyskinesia (exercise induced or without clear trigger","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:48:36.641901+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:47:50.131896+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20002125, 22079328; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170, Paroxysmal dyskinesia (exercise induced or without clear trigger; Mode of inheritance: Other","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:46:15.459665+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHA1 as Green List (high evidence)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:46:15.446994+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T17:45:23.849894+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHX as ready","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:45:23.821293+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:44:32.899349+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PDHX were changed from  to Lactic acidemia due to PDX1 deficiency, MIM# 245349; episodic dystonia; Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features)","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:44:06.310286+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PDHX were set to ","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:43:21.409173+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PDHX was changed from Other to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:42:58.461475+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHX as Green List (high evidence)","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:42:58.449065+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:42:24.225478+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: PDHX: Paroxysmal dystonia secondary to basal ganglia lesions","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:40:44.903679+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDHX: Changed publications: 16566017, 20002125","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:39:10.742302+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: 16566017; Phenotypes: Lactic acidemia due to PDX1 deficiency, MIM# 245349, episodic dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T17:37:44.342689+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DLAT as ready","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:37:44.330323+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlat has been classified as Green List (High Evidence).","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:37:41.911457+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLAT were changed from  to Pyruvate dehydrogenase E2 deficiency, MIM# 245348; Episodic dystonia (Exercise induced or without clear trigger)","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:37:12.019493+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DLAT were set to ","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:36:48.535686+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DLAT as Green List (high evidence)","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:36:48.526764+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dlat has been classified as Green List (High Evidence).","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:36:15.567978+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 20022530, 29093066; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM# 245348, Episodic dystonia (Exercise induced or without clear trigger); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T17:31:47.701303+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCH1 as ready","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:31:47.690979+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:31:42.518094+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from Dopa-responsive dystonia; exercise-induced dystonia to Dopa-responsive dystonia; exercise-induced dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia\t128230","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:30:41.056074+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCH1 as Green List (high evidence)","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:30:41.046419+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:16:19.163788+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPK1 as ready","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:16:19.154824+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:16:15.032880+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPK1 as Amber List (moderate evidence)","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:16:15.017891+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:15:46.187609+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPK1 was added\ngene: ALPK1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALPK1 were set to 31053777\nPhenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome\nReview for gene: ALPK1 was set to AMBER\nAdded comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling. \nSources: Literature","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:14:06.029866+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSGALNACT1 as ready","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T17:14:06.019434+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csgalnact1 has been classified as Green List (High Evidence).","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T17:13:48.320075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPK1 as ready","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:13:48.311199+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:13:11.454985+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPK1 as Amber List (moderate evidence)","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:13:11.446337+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Amber List (Moderate Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:12:51.325164+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2583","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ALPK1 was added\ngene: ALPK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ALPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALPK1 were set to 31053777\nPhenotypes for gene: ALPK1 were set to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome\nReview for gene: ALPK1 was set to AMBER\nAdded comment: Three unrelated families reported. One of the variants segregated in four affected individuals in one family and another was found to be de novo. The third variant however was not segregated, and is also present in 18 individuals in gnomad. Hence the evidence for variant pathogenicity in this third case is not compelling. \nSources: Literature","entity_name":"ALPK1","entity_type":"gene"},{"created":"2020-04-22T17:03:08.917812+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"edited their review of gene: GCH1: Changed phenotypes: Dopa-responsive dystonia, exercise-induced dystonia; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:00:53.048094+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2588","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC32 as ready","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T17:00:53.039126+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T17:00:47.326007+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2588","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC32 as Amber List (moderate evidence)","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T17:00:47.317197+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T17:00:14.679934+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2587","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC32 was added\ngene: LRRC32 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to 30976112\nPhenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy\nReview for gene: LRRC32 was set to AMBER\nAdded comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. \nSources: Literature","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:57:54.908032+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2582","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC32 as ready","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:57:54.895195+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:57:44.607133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2582","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC32 as Amber List (moderate evidence)","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:57:44.598518+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:57:18.082000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2581","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC32 was added\ngene: LRRC32 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LRRC32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRRC32 were set to 30976112\nPhenotypes for gene: LRRC32 were set to Intellectual disability; cleft palate; proliferative retinopathy\nReview for gene: LRRC32 was set to AMBER\nAdded comment: Three individuals from two consanguineous families segregated the same homozygous bi-allelic variant, c.1630C>T; p.(Arg544Ter), shared haplotype indicative of founder effect. Mouse model has cleft palate and neonatal death. \nSources: Literature","entity_name":"LRRC32","entity_type":"gene"},{"created":"2020-04-22T16:50:09.648853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2580","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: KIF12 was added\ngene: KIF12 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF12 were set to PMID: 30250217; 30976738\nPhenotypes for gene: KIF12 were set to Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT)\nReview for gene: KIF12 was set to AMBER\ngene: KIF12 was marked as current diagnostic\nAdded comment: > 3 unrelated families,but they are all consanguineous families \nSources: Literature","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T15:33:09.652097+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"commented on gene: GCH1","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T15:31:40.402523+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"gene: GCH1 was added\ngene: GCH1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to Dopa-responsive dystonia; exercise-induced dystonia","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T15:25:18.582100+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMAD4 as ready","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-22T15:25:18.572502+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad4 has been classified as Green List (High Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-22T15:25:14.414450+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMAD4 as Green List (high evidence)","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-22T15:25:14.401477+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad4 has been classified as Green List (High Evidence).","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-22T15:24:44.980247+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD4 were set to 30809044\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM#\t175050; Thoracic aortic aneurysm\nReview for gene: SMAD4 was set to GREEN\nAdded comment: SMAD4 pathogenic variants cause juvenile polyposis (JPS) and hereditary hemorrhagic telangiectasia (HHT), and 40% of affected individuals also have thoracic aortic disease. Three individuals recently reported with rare/novel missense and isolated thoracic aortic aneurysm. \nSources: Literature","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-22T15:10:31.961625+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"edited their review of gene: DLAT: Changed publications: McWilliam et al. 2010. Eur J Paediatr Neurol 14(4):349-53 (PMID: 2002, 2530), Friedman J et al. 2017. Neurology 89: 2297-2298 (PMID:; Changed phenotypes: Episodic dystonia (Exercise induced or without clear trigger)","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T15:04:58.881780+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"commented on gene: PDHX: PDX1 deficiency","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T15:03:39.521262+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"gene: DLAT was added\ngene: DLAT was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nAdded comment: Also known as pyruvate dehydrogenase E2 deficiency \nSources: Literature","entity_name":"DLAT","entity_type":"gene"},{"created":"2020-04-22T15:02:06.424408+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCAPER as ready","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-04-22T15:02:06.414694+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scaper has been classified as Green List (High Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-04-22T15:02:01.005436+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCAPER as Green List (high evidence)","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-04-22T15:02:00.996087+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scaper has been classified as Green List (High Evidence).","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-04-22T15:01:50.887272+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"reviewed gene: PDHX: Rating: ; Mode of pathogenicity: None; Publications: Schiff et al 2006 Ann Neurol 59(4):709-14 (PMID: 1656, 6017); Phenotypes: Paroxysmal dyskinesia (exercise induced or without clear trigger, isolated or with additional features), mitochondrial disorder (Leigh syndrome, ataxia), neurodevelopmental disability, epilepsy.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T15:01:32.806182+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SCAPER was added\ngene: SCAPER was added to Bardet Biedl syndrome. Sources: Literature\nMode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCAPER were set to 30723319; 28794130; 31069901; 31192531; 30723319\nPhenotypes for gene: SCAPER were set to Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195; Bardet-Biedl syndrome\nReview for gene: SCAPER was set to GREEN\nAdded comment: Two distantly related consanguineous families reported plus note some of the individuals in the preceding papers had a BBS phenotype. Functional data to associate SCAPER with ciliary dynamics and disassembly. \nSources: Literature","entity_name":"SCAPER","entity_type":"gene"},{"created":"2020-04-22T14:55:09.439241+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"gene: PDHX was added\ngene: PDHX was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: PDHX was set to Other","entity_name":"PDHX","entity_type":"gene"},{"created":"2020-04-22T14:54:16.399407+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"gene: PDHA1 was added\ngene: PDHA1 was added to Paroxysmal Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: PDHA1 was set to Other\nPublications for gene: PDHA1 were set to Barnerias C et al. 2010 Dev Med Child Neurol. 52:e1-e9 (PMID: 2000; 2125); Patel et al. 2012 Mol Genet Metab 105(1):34-43 (PMID: 2207; 9328)\nPhenotypes for gene: PDHA1 were set to Paroxysmal dyskinesia (exercise induced or without clear trigger; isolated or with additional features); mitochondrial disorder (Leigh syndrome, ataxia); neurodevelopmental disability; epilepsy.\nAdded comment: Phenotype can be quite broad\r\nXLR inheritance - phenotype in females dependent on X-chromosome inactivation patterns\r\n\r\nMay respond to thiamine supplementation \nSources: Expert Review","entity_name":"PDHA1","entity_type":"gene"},{"created":"2020-04-22T14:33:16.833842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2580","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSGALNACT1 were set to ","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T14:32:51.093712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2579","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31705726, 31325655; Phenotypes: Congenital disorder of glycosylation, skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T14:32:24.857032+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSGALNACT1 as Green List (high evidence)","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T14:32:24.843091+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csgalnact1 has been classified as Green List (High Evidence).","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T14:31:57.433334+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSGALNACT1 was added\ngene: CSGALNACT1 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSGALNACT1 were set to 31705726; 31325655\nPhenotypes for gene: CSGALNACT1 were set to Congenital disorder of glycosylation; skeletal dysplasia\nReview for gene: CSGALNACT1 was set to GREEN\nAdded comment: Four unrelated families reported. \nSources: Literature","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2020-04-22T14:27:21.459668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2579","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBAP1 were changed from Spastic paraplegia 80, autosomal dominant\t618418 to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant 618418","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:26:50.126521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2578","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBAP1 were set to 31203368","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:20:10.129185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2577","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31696996; Phenotypes: Childhood-onset hereditary spastic paraplegia, Spastic paraplegia 80, autosomal dominant 618418; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:19:57.293320+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"gene: ECHS1 was added\ngene: ECHS1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to Olgiati S, Skorvanek M, Quadri M, et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31:1041–8 (PMID: 2709; 0768); Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264:185–7. (PMID: 2803; 9521)\nPhenotypes for gene: ECHS1 were set to early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)\nAdded comment: PxD phenotype\r\n- intermittent episodes of long-duration dystonia or episodes of dystonia induced by sustained exercise \nSources: Literature","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T14:17:23.713661+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBAP1 as ready","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:17:23.704435+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubap1 has been classified as Green List (High Evidence).","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:17:19.961937+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UBAP1 as Green List (high evidence)","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:17:19.951480+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubap1 has been classified as Green List (High Evidence).","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:17:10.410378+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBAP1 was added\ngene: UBAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature\nMode of inheritance for gene: UBAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBAP1 were set to 31696996\nPhenotypes for gene: UBAP1 were set to Childhood-onset hereditary spastic paraplegia; Spastic paraplegia 80, autosomal dominant\t618418\nMode of pathogenicity for gene: UBAP1 was set to Other\nReview for gene: UBAP1 was set to GREEN\nAdded comment: Five unrelated families reported with childhood-onset HSP. A recurrent two‐base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense‐mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified  are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant‐negative effect on the normal function of the endosome‐specific endosomal sorting complexes required for the transport‐I complex. \nSources: Literature","entity_name":"UBAP1","entity_type":"gene"},{"created":"2020-04-22T14:05:36.794605+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.10","user_name":"Eunice Chan","item_type":"entity","text":"commented on gene: PNKD","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T09:56:02.391829+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2577","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RHOA were changed from normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia to normal cognition; leukoencephalopathy; micro-ophthalmia; strabismus; linear hypopigmentation; malar hypoplasia; downslanting palpebral fissures; microstomia; dental anomalies; body asymmetry; limb length discrepancy","entity_name":"RHOA","entity_type":"gene"},{"created":"2020-04-22T09:55:04.856948+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2576","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RHOA were set to 31570889","entity_name":"RHOA","entity_type":"gene"},{"created":"2020-04-22T09:54:39.821277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2575","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RHOA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31821646; Phenotypes: hypopigmented areas of the skin, dental anomalies, body asymmetry, limb length discrepancy, MRI abnormalities; Mode of inheritance: Other","entity_name":"RHOA","entity_type":"gene"},{"created":"2020-04-22T09:48:43.740603+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2586","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NTNG2: Changed phenotypes: Intellectual disability, autism, dysmorphic features, Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia, MIM# 618718","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-04-22T09:48:28.148281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2586","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NTNG2 were set to 31668703","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-04-22T09:47:42.507880+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NTNG2: Added comment: Two more families reported, phenotype described as Rett-like. Both families had same homozygous frameshift mutation (chr9:135073515, c.376dupT, p.(Ser126PhefsTer241).; Changed publications: 31668703, 31692205","entity_name":"NTNG2","entity_type":"gene"},{"created":"2020-04-22T09:43:58.872706+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1 as ready","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-04-22T09:43:58.863230+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1 has been classified as Green List (High Evidence).","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-04-22T09:43:54.499894+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF1 were changed from  to Mental retardation, X-linked, syndromic 33, MIM# 300966","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-04-22T09:43:25.261894+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TAF1 were set to ","entity_name":"TAF1","entity_type":"gene"}]}