{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=447","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=445","results":[{"created":"2024-05-23T15:53:14.641327+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5902","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAMD9 as ready","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:53:14.619576+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5902","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: samd9 has been classified as Green List (High Evidence).","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:52:21.142908+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CPS1 was added\ngene: CPS1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPS1 were set to 9862865; 29801986; 27834067; 27150549; 22173106\nPhenotypes for gene: CPS1 were set to carbamoyl phosphate synthetase I deficiency disease MONDO:0009376\nReview for gene: CPS1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/10/2018 - https://search.clinicalgenome.org/CCID:004568\r\n\r\nWell established gene-disease association. Reported individuals are deficient in CPS which affects their urea cycle. Classified as an inborn error of metabolism of the urea cycle. \nSources: ClinGen","entity_name":"CPS1","entity_type":"gene"},{"created":"2024-05-23T15:50:49.228872+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5902","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAMD9 were changed from MIRAGE Syndrome, MIM#617053 to MIRAGE Syndrome, MIM#617053","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:50:14.950928+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5901","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAMD9 were changed from  to MIRAGE Syndrome, MIM#617053","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:49:28.689356+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5900","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SAMD9 were set to ","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:48:17.318374+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5899","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SAMD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:47:30.473371+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5898","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE Syndrome, MIM#617053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SAMD9","entity_type":"gene"},{"created":"2024-05-23T15:47:09.009636+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5898","user_name":"Hali Van Niel","item_type":"entity","text":"reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: None; Publications: 22581619, 31053785, 30568244, 18252212, 21340693, 34926457, 36140739, 37107605; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP4","entity_type":"gene"},{"created":"2024-05-23T15:45:15.742536+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:45:15.728174+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Green List (High Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:43:56.469263+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to ","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:43:17.872405+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIG4 were changed from  to LIG4 syndrome, MIM# 606593","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:42:35.707927+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:42:24.262776+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CBS was added\ngene: CBS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBS were set to 20301697; 18987302; 29398487\nPhenotypes for gene: CBS were set to classic homocystinuria MONDO:0009352\nReview for gene: CBS was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 12/04/2019 - https://search.clinicalgenome.org/CCID:004360\r\n\r\nWell established gene-disease association. Multiple reported individuals and mouse models recapitulating the clinical phenotype. Classic homocystinuria is an inborn error of amino acid metabolism. \nSources: ClinGen","entity_name":"CBS","entity_type":"gene"},{"created":"2024-05-23T15:40:45.617308+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5898","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:40:45.600395+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5898","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Green List (High Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:40:37.401348+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5898","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to ","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:39:54.284637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5897","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIG4 were changed from  to LIG4 syndrome, MIM# 606593","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:39:09.256493+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5896","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:38:30.198865+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5895","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:37:00.030302+10:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIG4 as ready","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:36:59.998534+10:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lig4 has been classified as Green List (High Evidence).","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:36:56.255899+10:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to ","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:36:45.487246+10:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:36:10.535907+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to 16088910; 9823897; 10911993; 15333585; 9809069, 12023982; 11040211; 15175260; 19451691; 17554302; 11779494","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:35:57.256201+10:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LIG4 were set to ","entity_name":"LIG4","entity_type":"gene"},{"created":"2024-05-23T15:34:32.767499+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5894","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A1 as ready","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:34:32.750785+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:34:28.066622+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5894","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A1 were changed from  to Congenital disorder of glycosylation, type IIf, MIM# 603585","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:33:47.015792+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5893","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A1 were set to ","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:33:04.162703+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5892","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:32:20.221056+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5891","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35A1 as Amber List (moderate evidence)","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:32:20.196525+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5891","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:31:08.782142+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35A1: Changed rating: AMBER","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:31:01.049365+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 3 families reported.; to: At least 3 families reported, neurological presentation in two.","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:29:56.471890+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35A1","entity_type":"gene"},{"created":"2024-05-23T15:28:49.005594+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"edited their review of gene: CA5A: Changed publications: 24530203, 26913920, 23589845, 25834911","entity_name":"CA5A","entity_type":"gene"},{"created":"2024-05-23T15:28:36.811486+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRPPRC as ready","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:28:36.796501+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrpprc has been classified as Green List (High Evidence).","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:28:31.452426+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5890","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRPPRC were changed from  to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:28:19.702195+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CA5A was added\ngene: CA5A was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA5A were set to 24530203, 26913920, 23589845\nPhenotypes for gene: CA5A were set to hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332\nReview for gene: CA5A was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 10/09/2018 - https://search.clinicalgenome.org/CCID:004309\r\n\r\nReported in >10 probands with biochemical abnormalities (inborn error of metabolism) \nSources: ClinGen","entity_name":"CA5A","entity_type":"gene"},{"created":"2024-05-23T15:27:53.598388+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5889","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRPPRC were set to ","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:14:05.457458+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5888","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:13:28.653763+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5887","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRPPRC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM#220111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2024-05-23T15:13:02.457916+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASS1 were set to 19006241\nPhenotypes for gene: ASS1 were set to citrullinemia type I MONDO:0008988\nReview for gene: ASS1 was set to GREEN\nAdded comment: Classified Definitive by ClinGen Aminoacidopathy GCEP on 27/12/2018 - https://search.clinicalgenome.org/CCID:004190\r\n\r\nWell-established gene-disease association. Reported individuals present with inborn error of  argininosuccinate synthetase metabolism. \nSources: ClinGen","entity_name":"ASS1","entity_type":"gene"},{"created":"2024-05-23T15:07:48.316437+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEUROG3 as ready","entity_name":"NEUROG3","entity_type":"gene"},{"created":"2024-05-23T15:07:48.282730+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurog3 has been classified as Green List (High Evidence).","entity_name":"NEUROG3","entity_type":"gene"},{"created":"2024-05-23T15:07:45.317709+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEUROG3 were changed from  to congenital malabsorptive diarrhea 4 MONDO:0012479","entity_name":"NEUROG3","entity_type":"gene"},{"created":"2024-05-23T15:07:17.645912+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARG1 as ready","entity_name":"ARG1","entity_type":"gene"},{"created":"2024-05-23T15:07:17.633600+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2024-05-23T15:07:14.509648+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARG1 were set to 16747805, 23859858, 1463019, 1598908, 12052859, 23920045","entity_name":"ARG1","entity_type":"gene"},{"created":"2024-05-23T15:06:49.303273+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARG1 as Green List (high evidence)","entity_name":"ARG1","entity_type":"gene"},{"created":"2024-05-23T15:06:49.286324+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arg1 has been classified as Green List (High Evidence).","entity_name":"ARG1","entity_type":"gene"},{"created":"2024-05-23T15:06:27.405148+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMT as ready","entity_name":"AMT","entity_type":"gene"},{"created":"2024-05-23T15:06:27.392039+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amt has been classified as Green List (High Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2024-05-23T15:06:19.994477+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AMT were set to 27362913, 8005589, 25231368, 26179960, 26371980, 27164344, 6863283, 18941301","entity_name":"AMT","entity_type":"gene"},{"created":"2024-05-23T15:05:46.660020+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AMT as Green List (high evidence)","entity_name":"AMT","entity_type":"gene"},{"created":"2024-05-23T15:05:46.637773+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amt has been classified as Green List (High Evidence).","entity_name":"AMT","entity_type":"gene"},{"created":"2024-05-23T15:05:16.864149+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASL as ready","entity_name":"ASL","entity_type":"gene"},{"created":"2024-05-23T15:05:16.849375+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asl has been classified as Green List (High Evidence).","entity_name":"ASL","entity_type":"gene"},{"created":"2024-05-23T15:05:12.859823+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASL were set to 2263616, 17326097, 19703900, 12559843, 22081021","entity_name":"ASL","entity_type":"gene"},{"created":"2024-05-23T15:04:49.519661+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASL as Green List (high evidence)","entity_name":"ASL","entity_type":"gene"},{"created":"2024-05-23T15:04:49.506716+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asl has been classified as Green List (High Evidence).","entity_name":"ASL","entity_type":"gene"},{"created":"2024-05-23T15:04:28.139716+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INS as ready","entity_name":"INS","entity_type":"gene"},{"created":"2024-05-23T15:04:28.127246+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ins has been classified as Green List (High Evidence).","entity_name":"INS","entity_type":"gene"},{"created":"2024-05-23T15:04:25.201636+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INS were changed from Diabetes mellitus, insulin-dependent, 2, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, type 1, 125852; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); MODY10; Maturity Onset Diabetes of the Young; Permanent Neonatal diabetes mellitus to diabetes mellitus, permanent neonatal 4 MONDO:0030089; maturity-onset diabetes of the young type 10 MONDO:0013240","entity_name":"INS","entity_type":"gene"},{"created":"2024-05-23T15:04:08.583767+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INS were set to ","entity_name":"INS","entity_type":"gene"},{"created":"2024-05-23T15:03:38.725213+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASNS as ready","entity_name":"ASNS","entity_type":"gene"},{"created":"2024-05-23T15:03:38.701366+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asns has been classified as Green List (High Evidence).","entity_name":"ASNS","entity_type":"gene"},{"created":"2024-05-23T15:03:19.500715+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASNS were set to 29375865, 25663424, 25227173, 29405484, 28776279, 30315573","entity_name":"ASNS","entity_type":"gene"},{"created":"2024-05-23T15:02:57.959001+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASNS as Green List (high evidence)","entity_name":"ASNS","entity_type":"gene"},{"created":"2024-05-23T15:02:57.937153+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asns has been classified as Green List (High Evidence).","entity_name":"ASNS","entity_type":"gene"},{"created":"2024-05-23T15:02:31.266435+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INSR as ready","entity_name":"INSR","entity_type":"gene"},{"created":"2024-05-23T15:02:31.246728+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: insr has been classified as Green List (High Evidence).","entity_name":"INSR","entity_type":"gene"},{"created":"2024-05-23T15:02:27.877074+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INSR were changed from Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; Leprechaunism, 246200; OMIM 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Rabson-Mendenhall syndrome, 262190 to insulin-resistance syndrome type A MONDO:0012520; Rabson-Mendenhall syndrome MONDO:0009874; Donohue syndrome MONDO:0009517","entity_name":"INSR","entity_type":"gene"},{"created":"2024-05-23T15:01:57.797326+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INSR were set to 8288049","entity_name":"INSR","entity_type":"gene"},{"created":"2024-05-23T15:01:17.627133+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Canavan disease MONDO:0010079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AGA","entity_type":"gene"},{"created":"2024-05-23T15:00:50.461875+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AGA as ready","entity_name":"AGA","entity_type":"gene"},{"created":"2024-05-23T15:00:50.448571+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aga has been classified as Green List (High Evidence).","entity_name":"AGA","entity_type":"gene"},{"created":"2024-05-23T15:00:45.420015+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AGA as Green List (high evidence)","entity_name":"AGA","entity_type":"gene"},{"created":"2024-05-23T15:00:45.401976+10:00","panel_name":"Aminoacidopathy","panel_id":3929,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aga has been classified as Green List (High Evidence).","entity_name":"AGA","entity_type":"gene"},{"created":"2024-05-23T15:00:17.692626+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA6 as ready","entity_name":"GATA6","entity_type":"gene"},{"created":"2024-05-23T15:00:17.674150+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata6 has been classified as Green List (High Evidence).","entity_name":"GATA6","entity_type":"gene"},{"created":"2024-05-23T15:00:14.826911+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects; Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes); PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS to pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802","entity_name":"GATA6","entity_type":"gene"},{"created":"2024-05-23T14:59:33.450845+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5887","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TREX1 as ready","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-23T14:59:33.438458+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5887","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-23T14:59:27.342001+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5887","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TREX1 were changed from  to Aicardi-Goutieres syndrome MONDO:0018866","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-23T14:58:51.374288+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5886","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TREX1 were set to ","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-23T14:58:05.706190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5885","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TREX1","entity_type":"gene"},{"created":"2024-05-23T14:56:16.097738+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5884","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERAC1 as ready","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:56:16.084996+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:56:10.226637+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5884","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERAC1 were changed from  to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:55:15.127534+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5883","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SERAC1 were set to ","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:54:49.577851+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERAC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:53:59.065833+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5882","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:53:18.419225+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5881","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741715, 37711114, 37090937, 28916646, 32684373; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL), MIM#614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2024-05-23T14:42:32.042889+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814","entity_name":"TAPBP","entity_type":"gene"},{"created":"2024-05-23T14:41:54.222968+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TAPBP: Changed phenotypes: Bare lymphocyte syndrome, type I, MIM# 604571, MHC class I deficiency 3, MIM# 620814","entity_name":"TAPBP","entity_type":"gene"},{"created":"2024-05-23T14:41:35.277597+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1796","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAPBP were changed from Bare lymphocyte syndrome, type I, MIM# 604571 to Bare lymphocyte syndrome, type I, MIM# 604571; MHC class I deficiency 3, MIM# 620814","entity_name":"TAPBP","entity_type":"gene"}]}