{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1247","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1245","results":[{"created":"2021-08-09T10:29:01.736883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8694","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CD19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD19","entity_type":"gene"},{"created":"2021-08-09T10:28:19.142152+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8693","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16672701, 17882224, 17882224, 21330302, 21159371; Phenotypes: Immunodeficiency, common variable, 3, MIM# 613493; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD19","entity_type":"gene"},{"created":"2021-08-08T18:27:23.229486+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"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":"2021-08-08T18:26:39.717438+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS26 as Amber List (moderate evidence)","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T18:26:39.706994+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps26 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T18:26:15.887865+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Craniofacial and limb anomalies are a feature.; to: Well established gene-disease association. Craniofacial and limb anomalies are a feature, though not classically a facial dysostosis syndrome, included as Amber due to possible phenotypic overlap.","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T18:26:08.206000+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS26: Changed rating: AMBER","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T18:25:58.557493+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL5 as Amber List (moderate evidence)","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T18:25:58.548890+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl5 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T18:25:29.702015+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Craniofacial and limb anomalies are a feature.; to: Well established gene-disease association. Craniofacial and limb anomalies are a feature, though not classically a facial dysostosis syndrome, included as Amber due to possible phenotypic overlap.","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T18:25:22.004370+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPL5: Changed rating: AMBER","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T18:25:11.293461+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPL11 as Amber List (moderate evidence)","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-08-08T18:25:11.284459+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl11 has been classified as Amber List (Moderate Evidence).","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-08-08T18:24:37.073536+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Craniofacial and limb abnormalities are common.; to: Well established gene-disease association. Craniofacial and limb abnormalities are common, though not classically a facial dysostosis syndrome, included as Amber due to possible phenotypic overlap.","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-08-08T18:24:07.959670+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPL11: Changed rating: AMBER","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-08-08T18:11:55.077683+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC2 as ready","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:11:55.063754+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc2 has been classified as Green List (High Evidence).","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:11:52.430739+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC2 were changed from  to Ellis-van Creveld syndrome, MIM# 225500; Weyers acrofacial dysostosis, MIM# 193530","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:11:27.090237+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC2 were set to ","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:10:56.159942+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:09:03.889272+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16404586, 19810119; Phenotypes: Ellis-van Creveld syndrome, MIM# 225500, Weyers acrofacial dysostosis, MIM# 193530; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC2","entity_type":"gene"},{"created":"2021-08-08T18:06:12.541825+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:06:12.531545+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:06:09.611628+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from  to Weyers acrofacial dysostosis, MIM# 193530; Ellis-van Creveld syndrome, MIM# 225500","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:05:47.569097+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC were set to ","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:05:19.594907+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:04:55.376168+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EVC: Changed rating: GREEN","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T18:04:48.417623+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EVC: Rating: ; Mode of pathogenicity: None; Publications: 10700184, 23220543; Phenotypes: Weyers acrofacial dysostosis, MIM# 193530, Ellis-van Creveld syndrome, MIM# 225500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-08-08T17:35:23.344719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4033","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPB as ready","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:35:23.334617+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4033","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpb has been classified as Green List (High Evidence).","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:35:15.022949+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4033","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRPB were changed from  to Cerebrocostomandibular syndrome, MIM# 117650","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:34:42.035917+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4032","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNRPB were set to ","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:34:15.935622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4031","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:33:41.405669+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4030","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25047197, 25504470, 26971886; Phenotypes: Cerebrocostomandibular syndrome, MIM# 117650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:33:03.994624+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: SNRPB.\nTag deep intronic tag was added to gene: SNRPB.","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:32:52.749641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPB as ready","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:32:52.739217+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpb has been classified as Green List (High Evidence).","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:32:45.275385+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRPB were changed from  to Cerebrocostomandibular syndrome, MIM# 117650","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:32:27.619568+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNRPB were set to ","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:32:07.800613+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:31:49.113805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8690","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: SNRPB.\nTag deep intronic tag was added to gene: SNRPB.","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:31:32.295435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8690","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25047197, 25504470, 26971886; Phenotypes: Cerebrocostomandibular syndrome, MIM# 117650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:30:52.591771+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPB as ready","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:30:52.580544+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpb has been classified as Green List (High Evidence).","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:30:39.983587+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNRPB were changed from  to Cerebrocostomandibular syndrome, MIM# 117650","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:30:10.121156+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNRPB were set to ","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:29:14.545077+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNRPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:28:13.539073+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNRPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25047197, 25504470, 26971886; Phenotypes: Cerebrocostomandibular syndrome, MIM# 117650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPB","entity_type":"gene"},{"created":"2021-08-08T17:25:18.224380+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SCARF2 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-08T17:23:51.208274+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS26 as ready","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:23:51.197771+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps26 has been classified as Green List (High Evidence).","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:23:45.147279+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS26 were changed from  to Diamond-Blackfan anemia 10, MIM# 613309; MONDO:0013217","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:23:22.317996+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS26 were set to ","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:22:53.137757+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS26 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:22:23.946682+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Craniofacial and limb anomalies are a feature.","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-08-08T17:21:55.550671+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPL5 as ready","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:21:55.541578+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpl5 has been classified as Green List (High Evidence).","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:21:52.821750+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPL5 were changed from  to Diamond-Blackfan anemia 6, MIM# 612561; MONDO:0012937","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:21:26.814910+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPL5 were set to ","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:20:59.017260+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:20:28.237849+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Craniofacial and limb anomalies are a feature.","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-08-08T17:19:52.462559+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBM10 as ready","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:19:52.452876+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm10 has been classified as Green List (High Evidence).","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:19:49.232040+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBM10 were changed from TARPS; Cleft palate; TARP SYNDROME to TARP syndrome, MIM# 311900","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:19:33.162578+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBM10 were set to 20451169","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:19:16.311713+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169, 24259342, 30450804, 30189253, 33340101; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:18:26.622162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8690","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBM10 as ready","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:18:26.611520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8690","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm10 has been classified as Green List (High Evidence).","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:18:18.423839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8690","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBM10 were changed from  to TARP syndrome, MIM# 311900","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:18:00.889231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBM10 were set to ","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:17:43.124980+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8688","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:17:26.045434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8687","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169, 24259342, 30450804, 30189253, 33340101; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:16:33.210302+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBM10 as ready","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:16:33.200007+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm10 has been classified as Green List (High Evidence).","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:16:30.361982+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBM10 were changed from  to TARP syndrome, MIM# 311900","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:16:05.363529+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBM10 were set to ","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:15:35.538652+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBM10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:15:12.484670+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451169, 24259342, 30450804, 30189253, 33340101; Phenotypes: TARP syndrome, MIM# 311900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RBM10","entity_type":"gene"},{"created":"2021-08-08T17:12:17.359781+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PUF60 from the panel","entity_name":null,"entity_type":null},{"created":"2021-08-08T17:10:14.954457+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:09:42.250684+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IPO8: Changed phenotypes: Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472, Loeys-Dietz syndrome-like, cardiovascular, neurologic, skeletal and immunologic abnormalities","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:09:23.523845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8687","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:09:02.166282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8686","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IPO8: Changed phenotypes: Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472, Loeys-Dietz syndrome-like, cardiovascular, neurologic, skeletal and immunologic abnormalities","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:08:44.036228+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IPO8 were changed from Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities to Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM#\t619472; Loeys-Dietz syndrome-like; cardiovascular, neurologic, skeletal and immunologic abnormalities","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:08:08.986699+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IPO8: Changed phenotypes: Vascular aneurysm, immune dysregulation, skeletal anomalies, and skin and joint laxity, MIM# 619472","entity_name":"IPO8","entity_type":"gene"},{"created":"2021-08-08T17:07:04.429205+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL2 were set to 23365102; 27378946; 32453731","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:06:54.727180+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants. Additional family reported in PMID 32453731; to: Monoallelic variants in this gene are a well established as a cause of cardiomyopathy. Thirteen infants from 9 families reported with bi-allelic variants in last exon and an infantile skeletal myopathy/DCM phenotype. Dutch families all had same founder variant; one Italian family had two different variants. Two additional families reported in PMID 32453731 and 33731536","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:06:36.051783+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYL2: Changed publications: 23365102, 27378946, 32453731, 33731536","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:02:34.804039+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYL2 as ready","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:02:34.793861+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myl2 has been classified as Green List (High Evidence).","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:02:27.990744+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYL2 were changed from Cardiomyopathy, familial hypertrophic, 10 to Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424; Cardiomyopathy, hypertrophic, 10, MIM# 608758","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:02:11.188947+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYL2 were set to ","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:01:58.289888+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T17:01:41.227772+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23365102, 27378946, 32453731; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424, Cardiomyopathy, hypertrophic, 10 608758; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYL2","entity_type":"gene"},{"created":"2021-08-08T15:14:26.660142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8686","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OTX2: Added comment: Three families reported with variants in OTX2 and otocyephaly-dysgnathia. Note variants were inherited in two of the families: in one family, from mother with microphthalmia (recognised OTX2 phenotype) and the other from an unaffected father. Lamb animal model reported.; Changed publications: 24167467, 25589041, 31969185; Changed phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125, Otocephaly-dysgnathia complex","entity_name":"OTX2","entity_type":"gene"},{"created":"2021-08-08T15:14:09.628725+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTX2 as ready","entity_name":"OTX2","entity_type":"gene"},{"created":"2021-08-08T15:14:09.618431+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Amber List (Moderate Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2021-08-08T15:13:53.451502+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OTX2 as Amber List (moderate evidence)","entity_name":"OTX2","entity_type":"gene"},{"created":"2021-08-08T15:13:53.442484+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otx2 has been classified as Amber List (Moderate Evidence).","entity_name":"OTX2","entity_type":"gene"},{"created":"2021-08-08T15:13:23.126391+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTX2 was added\ngene: OTX2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Expert Review\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OTX2 were set to 24167467; 25589041; 31969185\nPhenotypes for gene: OTX2 were set to Otocephaly-dysgnathia complex\nReview for gene: OTX2 was set to AMBER\nAdded comment: Three families reported with variants in OTX2 and otocyephaly-dysgnathia. Note variants were inherited in two of the families: in one family, from mother with microphthalmia (recognised OTX2 phenotype) and the other from an unaffected father. Lamb animal model reported. \nSources: Expert Review","entity_name":"OTX2","entity_type":"gene"}]}