{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=546","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=544","results":[{"created":"2023-09-22T02:49:44.451428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1201","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B3GNT2: Changed phenotypes: Muscular dystrophy-dystroglycanopathy, MONDO:0018276, B3GNT2-related","entity_name":"B3GNT2","entity_type":"gene"},{"created":"2023-09-22T02:47:27.420475+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AXL were changed from Kallman syndrome; normosmic idiopathic hypogonadotropic hypogonadism to Kallman syndrome, MONDO:0018800, AXL-related; normosmic idiopathic hypogonadotropic hypogonadism","entity_name":"AXL","entity_type":"gene"},{"created":"2023-09-22T02:45:22.696528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATXN2L were changed from macrocephaly; intellectual disability to Neurodevelopmental disorder,  MONDO:0700092, ATXN2L-related","entity_name":"ATXN2L","entity_type":"gene"},{"created":"2023-09-22T02:43:26.719101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1199","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRIP were changed from Seckel Syndrome to Seckel Syndrome, MONDO:0019342, ATRIP-related","entity_name":"ATRIP","entity_type":"gene"},{"created":"2023-09-22T02:39:57.737456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1198","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP2B4 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia, MONDO:0019064, ATP2B4-related","entity_name":"ATP2B4","entity_type":"gene"},{"created":"2023-09-22T02:37:32.234220+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5481","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASTN2 as ready","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:37:32.212689+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: astn2 has been classified as Amber List (Moderate Evidence).","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:35:24.897963+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5481","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASTN2 as Amber List (moderate evidence)","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:35:24.870247+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: astn2 has been classified as Amber List (Moderate Evidence).","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:35:19.390946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1197","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASTN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:34:51.451746+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5480","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASTN2 was added\ngene: ASTN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ASTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ASTN2 were set to 28940097; 34412080; 27138430\nPhenotypes for gene: ASTN2 were set to Neurodevelopmental disorder, MONDO:0700092, ASTN2-related\nReview for gene: ASTN2 was set to AMBER\nAdded comment: Candidate gene reported by Anazi et al; rare CNVs also reported; other circumstantial evidence. \nSources: Literature","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:33:25.671708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1196","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASTN2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:32:20.328083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1196","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASTN2: Changed publications: 28940097, 34412080, 27138430","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:30:51.708331+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1196","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASTN2: Added comment: Rare CNVs also reported.; Changed publications: 28940097, 34412080","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:29:14.353712+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1196","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASTN2: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ASTN2-related","entity_name":"ASTN2","entity_type":"gene"},{"created":"2023-09-22T02:27:53.432256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASTN1 were changed from Polymicrogyria; hypoplastic corpus callosum to Cerebral malformation, MONDO:0016054, ASTN1-related","entity_name":"ASTN1","entity_type":"gene"},{"created":"2023-09-22T02:27:29.028115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1195","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ASTN1: Changed phenotypes: Cerebral malformation, MONDO:0016054, ASTN1-related","entity_name":"ASTN1","entity_type":"gene"},{"created":"2023-09-21T13:10:08.064325+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5479","user_name":"Kaitlyn Dianna Weldon","item_type":"entity","text":"reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 29334452; Phenotypes: trichohepatoenteric syndrome 1 MONDO:0024541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2023-09-21T09:21:45.456499+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GYG1 as ready","entity_name":"GYG1","entity_type":"gene"},{"created":"2023-09-21T09:21:45.433144+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gyg1 has been classified as Green List (High Evidence).","entity_name":"GYG1","entity_type":"gene"},{"created":"2023-09-21T09:15:16.372997+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GYG1 as Green List (high evidence)","entity_name":"GYG1","entity_type":"gene"},{"created":"2023-09-21T09:15:16.357137+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gyg1 has been classified as Green List (High Evidence).","entity_name":"GYG1","entity_type":"gene"},{"created":"2023-09-21T09:14:00.419043+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GYG1 was added\ngene: GYG1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GYG1 were set to 29422440; 32477874; 32528171\nPhenotypes for gene: GYG1 were set to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507\nReview for gene: GYG1 was set to GREEN\ngene: GYG1 was marked as current diagnostic\nAdded comment: Limb-girdle muscle weakness can be a feature of this myopathy. \nSources: Literature","entity_name":"GYG1","entity_type":"gene"},{"created":"2023-09-21T05:39:22.526871+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related","entity_name":"ARIH1","entity_type":"gene"},{"created":"2023-09-21T05:38:31.614972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1195","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARIH1 were changed from Thoracic aortic aneurysm to Thoracic aortic aneurysm, MONDO:0005396, ARIH1-related","entity_name":"ARIH1","entity_type":"gene"},{"created":"2023-09-21T05:36:04.510223+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2023-09-21T05:35:41.608740+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP29 were changed from cleft lip with or without cleft palate; Cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2023-09-21T05:35:10.289736+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP29 were changed from Cleft palate; cleft lip with or without cleft palate to Clefting disorder, MONDO:0000358, ARHGAP29-related","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2023-09-21T05:34:49.557298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1193","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARHGAP29: Changed phenotypes: Clefting disorder, MONDO:0000358, ARHGAP29-related","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2023-09-21T05:32:43.041385+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related","entity_name":"ARHGAP24","entity_type":"gene"},{"created":"2023-09-21T05:32:09.888140+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related","entity_name":"ARHGAP24","entity_type":"gene"},{"created":"2023-09-21T05:31:49.834866+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP24 were changed from FSGS to FSGS, MONDO:0005363, ARHGAP24-related","entity_name":"ARHGAP24","entity_type":"gene"},{"created":"2023-09-21T05:31:28.818001+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1192","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARHGAP24: Changed phenotypes: FSGS, MONDO:0005363, ARHGAP24-related","entity_name":"ARHGAP24","entity_type":"gene"},{"created":"2023-09-21T05:29:22.095315+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1192","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF3 were changed from Dystonia to Dystonia, MONDO:0044807, ARFGEF3-related","entity_name":"ARFGEF3","entity_type":"gene"},{"created":"2023-09-21T05:27:26.677739+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARF3 were changed from Global developmental delay; Intellectual disability; Seizures; Morphological abnormality of the central nervous system to Neurodevelopmental disorder, MONDO:0700092, ARF3-related","entity_name":"ARF3","entity_type":"gene"},{"created":"2023-09-21T05:24:47.936821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARAP3 were changed from Lymphoedema to Lymphoedema, MONDO:0019297, ARAP3-related","entity_name":"ARAP3","entity_type":"gene"},{"created":"2023-09-21T05:24:19.885782+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1189","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARAP3: Changed phenotypes: Lymphoedema, MONDO:0019297, ARAP3-related","entity_name":"ARAP3","entity_type":"gene"},{"created":"2023-09-20T11:22:11.894843+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5479","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MCCC1 as ready","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T11:22:11.882255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5479","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mccc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:56:28.589371+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5479","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MCCC1 were changed from  to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:56:06.524564+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1189","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MCCC1 were set to 27604308; 11170888; 31730530","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:44:02.787846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5478","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MCCC1 were set to ","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:43:16.209906+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MCCC1 were set to 29152456; 31730530; 27604308; 11170888","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:42:55.727373+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.31","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MCCC1 were set to 27604308; 11170888","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:42:35.137852+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.30","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:42:17.604636+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5477","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:41:41.569563+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:40:58.922681+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5476","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MCCC1 as Amber List (moderate evidence)","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:40:58.910229+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5476","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: mccc1 has been classified as Amber List (Moderate Evidence).","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:40:26.463962+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5475","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:38:32.526081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1188","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:32:09.679933+10:00","panel_name":"Disorders of branched chain amino acid metabolism","panel_id":3929,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:31:54.630326+10:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.30","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-20T10:31:03.691100+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1188","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-09-19T18:33:07.912804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1188","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP1B1 were changed from Intellectual disability; enteropathy; deafness; ichthyosis; keratoderma to Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150","entity_name":"AP1B1","entity_type":"gene"},{"created":"2023-09-19T18:32:47.484484+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1187","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AP1B1: Changed phenotypes: Keratitis-ichthyosis-deafness syndrome, autosomal recessive, MIM# 242150","entity_name":"AP1B1","entity_type":"gene"},{"created":"2023-09-19T17:47:09.085635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2023-09-19T17:46:43.858650+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKZF1 were changed from Infantile-onset inflammatory bowel disease to Infantile-onset inflammatory bowel disease, MONDO:0005265, ANKZF1-related","entity_name":"ANKZF1","entity_type":"gene"},{"created":"2023-09-19T17:44:43.294221+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKDR31-related","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2023-09-19T17:44:01.667761+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANKRD31 were changed from Premature ovarian failure to Premature ovarian failure, MONDO:0019852, ANKRD31-related","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2023-09-19T16:40:57.200096+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1185","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AMBRA1 were changed from Neural tube defects to Neural tube defects, susceptibility to, MONDO:0020705, AMBRA1-related","entity_name":"AMBRA1","entity_type":"gene"},{"created":"2023-09-19T16:36:55.605144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related","entity_name":"ALPI","entity_type":"gene"},{"created":"2023-09-19T16:36:36.057692+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1183","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related","entity_name":"ALPI","entity_type":"gene"},{"created":"2023-09-19T16:36:19.984019+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPI were changed from Inflammatory bowel disease to Inflammatory bowel disease, MONDO:0005265, ALPI-related","entity_name":"ALPI","entity_type":"gene"},{"created":"2023-09-19T16:30:57.668989+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALPI: Changed phenotypes: Inflammatory bowel disease, MONDO:0005265, ALPI-related","entity_name":"ALPI","entity_type":"gene"},{"created":"2023-09-19T16:03:38.579926+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related","entity_name":"ALG10","entity_type":"gene"},{"created":"2023-09-19T16:02:59.233845+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1918","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related","entity_name":"ALG10","entity_type":"gene"},{"created":"2023-09-19T15:43:10.598671+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related","entity_name":"ALG10","entity_type":"gene"},{"created":"2023-09-19T15:42:09.083700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG10 were changed from Progressive myoclonus epilepsy; CDG to Congenital disorder of glycosylation, MONDO:0015286, ALG10-related","entity_name":"ALG10","entity_type":"gene"},{"created":"2023-09-19T15:41:47.448084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1182","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG10: Changed phenotypes: Congenital disorder of glycosylation, MONDO:0015286, ALG10-related","entity_name":"ALG10","entity_type":"gene"},{"created":"2023-09-19T15:38:07.412568+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1182","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1E2 were changed from congenital cataracts to Cataract, MONDO:0005129, AKR1E2-related","entity_name":"AKR1E2","entity_type":"gene"},{"created":"2023-09-19T15:37:46.626272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AKR1E2: Changed phenotypes: Cataract, MONDO:0005129, AKR1E2-related","entity_name":"AKR1E2","entity_type":"gene"},{"created":"2023-09-19T15:37:30.070781+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKR1E2 were changed from congenital cararact to Cataract, MONDO:0005129, AKR1E2-related","entity_name":"AKR1E2","entity_type":"gene"},{"created":"2023-09-19T15:36:53.017811+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKR1E2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract, MONDO:0005129, AKR1E2-related; Mode of inheritance: None","entity_name":"AKR1E2","entity_type":"gene"},{"created":"2023-09-19T15:35:05.688324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related","entity_name":"AKNA","entity_type":"gene"},{"created":"2023-09-19T15:34:43.480963+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AKNA","entity_type":"gene"},{"created":"2023-09-19T15:34:03.907748+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKNA were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, AKNA-related","entity_name":"AKNA","entity_type":"gene"},{"created":"2023-09-19T15:33:34.726944+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AKNA: Changed phenotypes: Primary ciliary dyskinesia, MONDO:0016575, AKNA-related","entity_name":"AKNA","entity_type":"gene"},{"created":"2023-09-19T15:32:26.086589+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related","entity_name":"AKAP6","entity_type":"gene"},{"created":"2023-09-19T15:31:51.945127+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5474","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related","entity_name":"AKAP6","entity_type":"gene"},{"created":"2023-09-19T15:31:30.718609+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKAP6 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AKAP6-related","entity_name":"AKAP6","entity_type":"gene"},{"created":"2023-09-19T15:31:07.661593+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1179","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AKAP6: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, AKAP6-related","entity_name":"AKAP6","entity_type":"gene"},{"created":"2023-09-18T18:44:04.796577+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1179","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGO3 were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, AGO3-related","entity_name":"AGO3","entity_type":"gene"},{"created":"2023-09-18T18:42:56.334240+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related","entity_name":"AGMO","entity_type":"gene"},{"created":"2023-09-18T18:41:54.975926+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1918","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related","entity_name":"AGMO","entity_type":"gene"},{"created":"2023-09-18T18:39:59.117076+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5474","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related","entity_name":"AGMO","entity_type":"gene"},{"created":"2023-09-18T18:39:11.113887+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AGMO were changed from microcephaly; intellectual disability; epilepsy to Neurodevelopmental disorder, MONDO:0700092, AGMO-related","entity_name":"AGMO","entity_type":"gene"},{"created":"2023-09-18T18:38:47.854061+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGMO: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, AGMO-related; Mode of inheritance: None","entity_name":"AGMO","entity_type":"gene"},{"created":"2023-09-18T18:25:09.250578+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5473","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related","entity_name":"ACTL6A","entity_type":"gene"},{"created":"2023-09-18T18:24:36.338025+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5472","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related","entity_name":"ACTL6A","entity_type":"gene"},{"created":"2023-09-18T18:24:16.728937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTL6A were changed from Intellectual disability to Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related","entity_name":"ACTL6A","entity_type":"gene"},{"created":"2023-09-18T18:23:52.869131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1176","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACTL6A: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ACTL6A-related","entity_name":"ACTL6A","entity_type":"gene"},{"created":"2023-09-18T18:22:03.709343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACER3 as Green List (high evidence)","entity_name":"ACER3","entity_type":"gene"},{"created":"2023-09-18T18:22:03.698354+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acer3 has been classified as Green List (High Evidence).","entity_name":"ACER3","entity_type":"gene"},{"created":"2023-09-18T18:19:44.888789+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADL were changed from Pulmonary surfactant dysfunction to Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related","entity_name":"ACADL","entity_type":"gene"},{"created":"2023-09-18T18:19:25.305295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1174","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACADL: Changed phenotypes: Hereditary pulmonary alveoral proteinosis, MONDO:0012580, ACADL-related","entity_name":"ACADL","entity_type":"gene"},{"created":"2023-09-18T18:11:42.497666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEMA3E were set to 15235037; 31691538; 31464029","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2023-09-18T18:09:54.809451+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2023-09-18T18:09:54.796907+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Amber List (Moderate Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2023-09-18T18:09:51.665951+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia to GABA-transaminase deficiency, MIM# 613163; intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia","entity_name":"ABAT","entity_type":"gene"}]}