{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1371","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1369","results":[{"created":"2021-03-27T11:58:14.907016+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.267","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:57:52.937454+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCTN2 as Red List (low evidence)","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:57:52.926890+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.266","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Red List (Low Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:57:29.375718+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:56:43.873561+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6915","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple families reported, ataxia is part of the phenotype.; to: At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model.","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:56:22.818762+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6915","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:56:22.804578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:56:15.599368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6915","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:55:58.587164+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6914","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:55:40.119962+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6913","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:55:23.684745+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6912","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN2: Changed publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Changed phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:54:48.673982+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:54:48.663883+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:54:46.122689+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.260","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:54:17.928645+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.259","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:53:50.777947+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.258","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:53:20.686226+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:51:03.083309+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN2 as ready","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:51:03.074037+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn2 has been classified as Green List (High Evidence).","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:51:00.417035+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN2 were changed from  to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:50:38.427894+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN2 were set to ","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:50:15.374476+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:49:45.164522+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21462283, 21565611, 25118024, 21725307, 32139166, 25118024, 32655147, 33590725; Phenotypes: Joubert syndrome 24, MIM# 616654, MONDO:0014724, Meckel syndrome 8, MIM# 613885, MONDO:0013482; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN2","entity_type":"gene"},{"created":"2021-03-27T11:45:18.942322+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN1 as ready","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:45:18.931529+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Red List (Low Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:45:16.003762+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from  to Joubert syndrome 13, MIM# 614173; MONDO:0013608","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:44:46.768884+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:44:24.860811+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCTN1 as Red List (low evidence)","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:44:24.851322+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Red List (Low Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:43:55.405099+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:43:03.111026+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6912","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN1 as ready","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:43:03.101582+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6912","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Green List (High Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:42:56.129761+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6912","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from  to Joubert syndrome 13, MIM# 614173; MONDO:0013608","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:42:31.113815+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6911","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN1 were set to ","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:42:13.079684+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6910","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:41:54.360692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6909","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Rare cause of JBS, ataxia specifically mentioned in at least one individual.; to: Rare cause of JBS, at least 4 families reported, mouse model.","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:41:34.833728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6909","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN1: Changed phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:40:56.117335+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN1 as ready","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:40:56.107011+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Green List (High Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:40:50.378875+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from  to Joubert syndrome 13, MIM# 614173; MONDO:0013608","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:40:28.704643+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN1 were set to ","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:39:28.419759+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:38:57.111717+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173, MONDO:0013608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:38:09.718268+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN1 as ready","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:38:09.706570+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn1 has been classified as Green List (High Evidence).","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:38:05.702494+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13, MIM# 614173 to Joubert syndrome 13, MIM# 614173; MONDO:0013608","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:37:22.838559+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN1 were changed from  to Joubert syndrome 13, MIM# 614173","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:36:59.854847+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN1 were set to ","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:36:24.244299+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:35:58.662303+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21725307, 26477546, 31302911, 26489806, 22693042; Phenotypes: Joubert syndrome 13, MIM# 614173; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN1","entity_type":"gene"},{"created":"2021-03-27T11:29:43.923028+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-03-27T11:27:02.130698+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEMA3E were set to 15235037","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:26:48.402420+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two individuals reported, one with translocation and one with a de novo missense variant, p.Ser703Leu. Note this variant is present in 7 individuals in gnomad.; to: Two individuals reported initially, one with translocation and one with a de novo missense variant, p.Ser703Leu. Note this variant is present in 7 individuals in gnomad.\r\n\r\nAnother recent report recently PMID 31691538 in a fetus with features of CHARGE, de novo missense. Some experimental data to support role in development.","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:25:55.901405+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEMA3E: Changed publications: 15235037, 31691538, 31464029","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:23:48.964293+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEMA3E: Changed publications: 15235037, 31691538","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:22:15.331451+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA3E as ready","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:22:15.321262+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3e has been classified as Red List (Low Evidence).","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:22:12.809683+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEMA3E were changed from CHARGE syndrome, 214800 to CHARGE syndrome, MIM# 214800; MONDO:0008965","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:22:04.922575+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEMA3E were set to ","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:21:54.912741+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEMA3E: Rating: RED; Mode of pathogenicity: None; Publications: 15235037; Phenotypes: CHARGE syndrome, MIM# 214800, MONDO:0008965; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2021-03-27T11:18:32.504679+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SALL4 from the panel","entity_name":null,"entity_type":null},{"created":"2021-03-27T11:17:21.316140+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KMT2D as ready","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:17:21.305478+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Amber List (Moderate Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:17:17.977741+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KMT2D were set to 27991736","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:17:06.327241+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KMT2D: Changed publications: 24705355, 27991736","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:15:08.333229+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KMT2D as Amber List (moderate evidence)","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:15:08.323331+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kmt2d has been classified as Amber List (Moderate Evidence).","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T11:14:59.501909+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KMT2D was added\ngene: KMT2D was added to Choanal atresia. Sources: Expert Review\nMode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KMT2D were set to 27991736\nPhenotypes for gene: KMT2D were set to Kabuki syndrome 1, MIM#\t147920\nReview for gene: KMT2D was set to AMBER\nAdded comment: Choanal atresia is a rare feature of Kabuki syndrome. \nSources: Expert Review","entity_name":"KMT2D","entity_type":"gene"},{"created":"2021-03-27T08:50:17.689133+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RERE as ready","entity_name":"RERE","entity_type":"gene"},{"created":"2021-03-27T08:50:17.680777+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rere has been classified as Green List (High Evidence).","entity_name":"RERE","entity_type":"gene"},{"created":"2021-03-27T08:50:10.252211+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RERE as Green List (high evidence)","entity_name":"RERE","entity_type":"gene"},{"created":"2021-03-27T08:50:10.242406+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rere has been classified as Green List (High Evidence).","entity_name":"RERE","entity_type":"gene"},{"created":"2021-03-27T08:50:01.413638+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RERE was added\ngene: RERE was added to Choanal atresia. Sources: Expert Review\nMode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RERE were set to 27087320; 29330883\nPhenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM#\t616975\nReview for gene: RERE was set to GREEN\nAdded comment: A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype.\r\n\r\nChoanal atresia has only been reported in association with the recurrent p.(Leu1438_His1439dup) variant. \nSources: Expert Review","entity_name":"RERE","entity_type":"gene"},{"created":"2021-03-27T08:40:23.153502+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHH as ready","entity_name":"SHH","entity_type":"gene"},{"created":"2021-03-27T08:40:23.143127+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Green List (High Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2021-03-27T08:40:18.302603+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHH as Green List (high evidence)","entity_name":"SHH","entity_type":"gene"},{"created":"2021-03-27T08:40:18.292860+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Green List (High Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2021-03-27T08:40:10.918013+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHH was added\ngene: SHH was added to Choanal atresia. Sources: Expert list\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHH were set to Single median maxillary central incisor, MIM#\t147250\nReview for gene: SHH was set to GREEN\nAdded comment: Well established gene-disease association. Choanal atresia and cribriform aperture stenosis are a feature. \nSources: Expert list","entity_name":"SHH","entity_type":"gene"},{"created":"2021-03-27T08:32:54.204097+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6909","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMCHD1 were set to 31600781","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:32:30.124120+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMCHD1: Added comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature. More than 30 unrelated individuals reported. Caused by gain of function missense variants with the extended ATPase domain.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed publications: 28067909; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:31:24.263199+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6908","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome, MIM 603457; Fascioscapulohumeral muscular dystrophy 2, digenic to Bosma arhinia microphthalmia syndrome, MIM 603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323; Fascioscapulohumeral muscular dystrophy 2, digenic","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:30:57.522567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6907","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMCHD1 was changed from  to Other","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:30:14.985057+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: SMCHD1 was changed from None to Other","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:30:02.766393+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.\r\n\r\nMore than 30 unrelated individuals reported.\r\n\r\naused by gain of function missense variants with the extended ATPase domain.\r\nSources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.\r\n\r\nMore than 30 unrelated individuals reported.\r\n\r\nCaused by gain of function missense variants with the extended ATPase domain.\r\nSources: Expert list","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:29:55.973630+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.\r\n\r\nMore than 30 unrelated individuals reported. \nSources: Expert list; to: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.\r\n\r\nMore than 30 unrelated individuals reported.\r\n\r\naused by gain of function missense variants with the extended ATPase domain.\r\nSources: Expert list","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:29:43.969029+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMCHD1: Changed mode of pathogenicity: Other; Changed phenotypes: Bosma arhinia microphthalmia syndrome, MIM# 603457, Arhinia, choanal atresia, microphthalmia MONDO:0011323","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:29:37.404003+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMCHD1 were changed from Bosma arhinia microphthalmia syndrome (MIM#603457) to Bosma arhinia microphthalmia syndrome (MIM#603457); Arhinia, choanal atresia, microphthalmia MONDO:0011323","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:28:31.205876+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMCHD1 as ready","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:28:31.195745+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:28:26.875988+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMCHD1 as Green List (high evidence)","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:28:26.865114+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smchd1 has been classified as Green List (High Evidence).","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:28:18.865207+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMCHD1 was added\ngene: SMCHD1 was added to Choanal atresia. Sources: Expert list\nMode of inheritance for gene: SMCHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMCHD1 were set to 28067909\nPhenotypes for gene: SMCHD1 were set to Bosma arhinia microphthalmia syndrome, MIM#\t603457; Arhinia, choanal atresia, microphthalmia MONDO:0011323\nReview for gene: SMCHD1 was set to GREEN\nAdded comment: Bosma arhinia microphthalmia syndrome (BAMS) is characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and smell, inguinal hernias, hypogonadotropic hypogonadism with cryptorchidism, and normal intelligence. Choanal atresia is a feature.\r\n\r\nMore than 30 unrelated individuals reported. \nSources: Expert list","entity_name":"SMCHD1","entity_type":"gene"},{"created":"2021-03-27T08:25:10.748202+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTPN14: Changed phenotypes: Choanal atresia and lymphoedema, MIM# 613611","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:58.373765+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN14 as ready","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:58.361354+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn14 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:55.283996+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPN14 were changed from Choanal atresia and lymphedema, 613611 to Choanal atresia and lymphoedema, MIM#613611; MONDO:0013324","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:22.036735+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTPN14 were set to 20826270","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:14.757343+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN14 as Amber List (moderate evidence)","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:14.748830+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn14 has been classified as Amber List (Moderate Evidence).","entity_name":"PTPN14","entity_type":"gene"},{"created":"2021-03-27T08:24:05.697107+11:00","panel_name":"Choanal atresia","panel_id":3498,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PTPN14: Rating: AMBER; Mode of pathogenicity: None; Publications: 20826270, https://doi.org/10.1016/j.mgene.2017.07.006; Phenotypes: Choanal atresia and lymphedema, MIM# 613611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTPN14","entity_type":"gene"}]}