{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=938","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=936","results":[{"created":"2022-03-15T12:59:02.383726+11:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-03-15T12:58:46.518543+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITGA7 were changed from  to Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-03-15T12:58:16.975039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITGA7 were set to ","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-03-15T12:57:15.278995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITGA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-03-15T12:56:54.182915+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11374","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITGA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 34552617, 9590299; Phenotypes: Muscular dystrophy, congenital, due to ITGA7 deficiency, MIM# 613204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITGA7","entity_type":"gene"},{"created":"2022-03-15T12:47:57.506691+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPA as ready","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:47:57.497229+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpa has been classified as Green List (High Evidence).","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:47:53.601739+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITPA were changed from  to Developmental and epileptic encephalopathy 35, MIM# 616647","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:47:20.403302+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4570","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITPA were set to ","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:46:44.758598+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4569","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:46:12.260023+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26224535, 19498443, 35234647, 35098521; Phenotypes: Developmental and epileptic encephalopathy 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:45:46.583675+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11374","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C1QC were changed from  to C1q deficiency MIM#613652","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:45:44.490088+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11373","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C1QC were set to ","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:45:19.914460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11373","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C1QC as ready","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:45:19.903430+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11373","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1qc has been classified as Green List (High Evidence).","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:45:15.455833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11373","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:45:10.472365+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPA as ready","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:45:10.455278+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpa has been classified as Green List (High Evidence).","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:44:53.237980+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11372","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 24157463; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:44:52.488884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11372","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITPA were changed from  to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:44:29.568057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11371","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITPA were set to ","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:44:05.711005+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.46","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: C1QC: Changed publications: 21654842, 8630118, 24157463","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:43:45.705535+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11370","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 26224535, 19498443, 35234647, 35098521; Phenotypes: Developmental and epileptic encephalopathy 35, MIM# 616647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:43:43.161174+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.46","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C1QC as ready","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:43:43.147897+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.46","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1qc has been classified as Green List (High Evidence).","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:43:26.350148+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.46","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C1QC were set to ","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:42:40.891741+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.45","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C1QC were changed from  to C1q deficiency MIM#613652","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:42:19.759726+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.45","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C1QC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:41:48.800449+11:00","panel_name":"Complement Deficiencies","panel_id":224,"panel_version":"0.44","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630118; Phenotypes: C1q deficiency MIM#613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"C1QC","entity_type":"gene"},{"created":"2022-03-15T12:40:16.351425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11370","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITPA","entity_type":"gene"},{"created":"2022-03-15T12:39:30.361532+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IVD as ready","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:39:30.346306+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ivd has been classified as Green List (High Evidence).","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:39:27.323251+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IVD were changed from Isovaleric acidemia\t243500 to Isovaleric acidaemia, MIM# 243500","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:39:16.410974+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IVD were set to 23063737; 26018748; 24019846; 23587913","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:38:59.439338+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:38:22.301414+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11369","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IVD as ready","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:38:22.291912+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11369","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ivd has been classified as Green List (High Evidence).","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:38:14.849906+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11369","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IVD were changed from  to Isovaleric acidaemia, MIM# 243500","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:37:54.443195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11368","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IVD were set to ","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:37:35.201265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11367","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IVD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:37:15.263554+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11366","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: None; Publications: 15486829; Phenotypes: Isovaleric acidaemia, MIM# 243500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IVD","entity_type":"gene"},{"created":"2022-03-15T12:35:53.051901+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11366","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C1QB were set to ","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:35:50.520899+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11366","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C1QB were changed from  to C1q deficiency, MIM# 613652","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:35:42.137426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11366","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C1QB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:35:40.317233+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C1QB as ready","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:35:40.304598+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1qb has been classified as Green List (High Evidence).","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:35:17.772101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C1QB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2894352, 17513176; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"C1QB","entity_type":"gene"},{"created":"2022-03-15T12:34:08.790448+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.112","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C12orf57 as ready","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:34:08.779997+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.112","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf57 has been classified as Green List (High Evidence).","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:34:03.211833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IYD as ready","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:34:03.199930+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iyd has been classified as Green List (High Evidence).","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:34:02.053735+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C12orf57 as ready","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:34:02.040169+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf57 has been classified as Green List (High Evidence).","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:33:49.930825+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IYD were changed from  to Thyroid dyshormonogenesis 4, MIM# 274800","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:33:34.818150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11364","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C12orf57 as ready","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:33:34.808361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11364","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf57 has been classified as Green List (High Evidence).","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:32:49.675637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11364","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C12orf4 as ready","entity_name":"C12orf4","entity_type":"gene"},{"created":"2022-03-15T12:32:49.666418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11364","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf4 has been classified as Green List (High Evidence).","entity_name":"C12orf4","entity_type":"gene"},{"created":"2022-03-15T12:32:33.937206+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C12orf4 as ready","entity_name":"C12orf4","entity_type":"gene"},{"created":"2022-03-15T12:32:33.926517+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf4 has been classified as Green List (High Evidence).","entity_name":"C12orf4","entity_type":"gene"},{"created":"2022-03-15T12:32:04.682288+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IYD were set to ","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:31:42.204032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:31:25.483203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11362","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C1GALT1C1 as ready","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:31:25.466854+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11362","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1galt1c1 has been classified as Green List (High Evidence).","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:31:19.003148+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: C1GALT1C1 as ready","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:31:18.990766+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1galt1c1 has been classified as Green List (High Evidence).","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:31:17.822378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11362","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families reported.; to: Four unrelated families reported in 2008, limited reports since.","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:30:48.125544+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11362","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: 18434651, 18434651; Phenotypes: Thyroid dyshormonogenesis 4, MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IYD","entity_type":"gene"},{"created":"2022-03-15T12:29:15.390206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11362","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C1GALT1C1 were changed from  to Tn polyagglutination syndrome, somatic MIM#300622","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:29:02.237232+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.11","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C1GALT1C1 were changed from  to Tn polyagglutination syndrome, somatic\tMIM#300622","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:28:40.288981+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: C1GALT1C1 as Green List (high evidence)","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:28:40.274123+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.10","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c1galt1c1 has been classified as Green List (High Evidence).","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:28:34.313291+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.9","user_name":"Ain Roesley","item_type":"entity","text":"gene: C1GALT1C1 was added\ngene: C1GALT1C1 was added to Red cell disorders. Sources: Literature\nsomatic tags were added to gene: C1GALT1C1.\nMode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: C1GALT1C1 were set to 18537974; 16251947\nReview for gene: C1GALT1C1 was set to GREEN\ngene: C1GALT1C1 was marked as current diagnostic\nAdded comment: Previously known as COSMC\r\n>3 unrelated. In 1 female, she was heterozygous for the variant in whole blood but homozygous in erythroblast culture \nSources: Literature","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:27:17.929008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11361","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C1GALT1C1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:26:42.817344+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11360","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C1GALT1C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18537974, 16251947; Phenotypes: Tn polyagglutination syndrome, somatic MIM#300622; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2022-03-15T12:17:59.148068+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCAF4 as ready","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T12:17:59.139018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scaf4 has been classified as Green List (High Evidence).","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T12:17:55.578080+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCAF4 were changed from Neurodevelopmental disorder, SCAF4-related MONDO#0700092 to Neurodevelopmental disorder MONDO#0700092, SCAF4-related","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T12:17:34.579939+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCAF4 as Green List (high evidence)","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T12:17:34.570771+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scaf4 has been classified as Green List (High Evidence).","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T12:14:02.972225+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C12orf57 were changed from  to Temtamy syndrome MIM#218340","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:13:41.296450+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:13:21.216166+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4568","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C12orf57 were set to ","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:12:40.811066+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4567","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: None; Current diagnostic: yes","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:12:05.100223+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.112","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: C12orf57 as Green List (high evidence)","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:12:05.088885+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.112","user_name":"Ain Roesley","item_type":"entity","text":"Gene: c12orf57 has been classified as Green List (High Evidence).","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:11:31.254577+11:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.111","user_name":"Ain Roesley","item_type":"entity","text":"gene: C12orf57 was added\ngene: C12orf57 was added to Hydrocephalus_Ventriculomegaly. Sources: Literature\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C12orf57 were set to 29383837; 31853307\nPhenotypes for gene: C12orf57 were set to Temtamy syndrome MIM#218340\nPenetrance for gene: C12orf57 were set to Complete\nReview for gene: C12orf57 was set to GREEN\ngene: C12orf57 was marked as current diagnostic\nAdded comment: 17/50 individuals reported with ventriculomegaly \nSources: Literature","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T12:04:20.018878+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.221","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MAPK1 as Amber List (moderate evidence)","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-03-15T12:04:19.998737+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.221","user_name":"Elena Savva","item_type":"entity","text":"Gene: mapk1 has been classified as Amber List (Moderate Evidence).","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-03-15T12:03:59.445175+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.221","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: MAPK1 as Amber List (moderate evidence)","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-03-15T12:03:59.432467+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.221","user_name":"Elena Savva","item_type":"entity","text":"Gene: mapk1 has been classified as Amber List (Moderate Evidence).","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-03-15T11:33:53.596160+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.220","user_name":"Elena Savva","item_type":"entity","text":"gene: MAPK1 was added\ngene: MAPK1 was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MAPK1 were set to PMID: 32721402\nPhenotypes for gene: MAPK1 were set to Noonan syndrome 13 MIM#619087\nReview for gene: MAPK1 was set to GREEN\nAdded comment: PMID: 32721402 - GOF de novo missense variants reported in Noonan patients. Patients showed DD, ID, craniofacial abnormalities and CHD\r\n\r\nSupported by K/I mouse model \nSources: Literature","entity_name":"MAPK1","entity_type":"gene"},{"created":"2022-03-15T11:19:35.717779+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.9","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SCAF4 was added\ngene: SCAF4 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCAF4 were set to PMID: 32730804\nPhenotypes for gene: SCAF4 were set to Neurodevelopmental disorder, SCAF4-related MONDO#0700092\nReview for gene: SCAF4 was set to GREEN\nAdded comment: PMID: 32730804- 11 individuals with SCAF4 variants, 9 are de novo. Present with mild to severe ID/Dev delay, most have seizures, 4 have cardiac defects, 4 have renal anomalies, 3 have urogenital anomalies, 6 have skeletal anomalies, 2 have GI anomalies. \nSources: Literature","entity_name":"SCAF4","entity_type":"gene"},{"created":"2022-03-15T11:15:33.289183+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.102","user_name":"Elena Savva","item_type":"entity","text":"changed review comment from: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \nSources: Literature; to: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \r\nSources: Literature","entity_name":"TET3","entity_type":"gene"},{"created":"2022-03-15T11:15:17.913331+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.102","user_name":"Elena Savva","item_type":"entity","text":"gene: TET3 was added\ngene: TET3 was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: TET3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: TET3 were set to PMID: 31928709\nPhenotypes for gene: TET3 were set to Beck-Fahrner syndrome\tMIM#618798\nReview for gene: TET3 was set to AMBER\nAdded comment: PMID: 31928709 - 11 cases in 8 families.\r\n3/11 had true macrocephaly (>2 SD above), 1/11 had borderline and relative macrocephaly. \r\nOf the three with true macrocephaly, 1/3 had AR disease accompanied by tall stature, 2/3 had AD de novo variants. The borderline and relative macrocephaly patient was also for AD disease\r\n\r\nHowever 2/11 patients (siblings) had microcephaly \nSources: Literature","entity_name":"TET3","entity_type":"gene"},{"created":"2022-03-15T10:23:53.596578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11360","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C12orf57 were changed from  to Temtamy syndrome MIM#218340","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T10:23:45.669404+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11359","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: C12orf57 were set to ","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T10:23:27.357613+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11359","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: C12orf57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T10:23:10.529623+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11358","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: None; Publications: 29383837, 31853307; Phenotypes: Temtamy syndrome MIM#218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"C12orf57","entity_type":"gene"},{"created":"2022-03-15T10:15:07.788659+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4567","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: C12orf4 were changed from  to Intellectual developmental disorder, autosomal recessive 66 MIM#618221","entity_name":"C12orf4","entity_type":"gene"}]}