{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=158","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=156","results":[{"created":"2025-10-02T16:45:17.080120+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.425","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B9D1: Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:45:00.265159+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B9D1 as ready","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:45:00.257755+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:44:56.543645+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Meckel syndrome 9 614209 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:44:33.280617+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 21493627; 24886560","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:43:59.915395+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:43:59.902270+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:43:37.696940+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B9D1: Added comment: Lumped by ClinGen. Additional cases reported.; Changed rating: GREEN; Changed publications: 24886560, 21493627, 25920555, 40565534, 40933483; Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:42:37.275163+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.326","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:42:14.707091+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.325","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 24886560; 21493627","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:41:31.323298+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.324","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:41:31.315258+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:41:02.904648+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.323","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B9D1: Added comment: Lumped by ClinGen. Additional individuals reported, promote to Green.; Changed publications: 24886560, 21493627, 40565534, 40933483; Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:40:03.684968+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.294","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:39:44.833245+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 24886560; 21493627; 25920555","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:39:07.174290+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:39:07.159859+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:38:46.998819+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.291","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B9D1: Added comment: Lumped by ClinGen. Additional cases reported, including some with polydactyly.; Changed rating: GREEN; Changed publications: 24886560, 21493627, 40565534, 40933483; Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:36:08.529936+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, OMIM #614209; Joubert syndrome 27, OMIM #617120 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:35:44.814047+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to ","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:35:16.785711+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:35:16.775382+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:34:46.745493+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: B9D1: Added comment: Lumped by ClinGen. Additional families reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 24886560, 21493627, 25920555, 40565534, 40933483; Changed phenotypes: Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:34:41.395689+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.323","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from DNM1.\nSource Literature was added to DNM1.\nPublications for gene DNM1 were changed from 25262651; 27066543; 33372033; 34172529; 36553519; 37900685 to 25262651; 27066543; 33372033; 34172529; 36553519; 37900685","entity_name":"DNM1","entity_type":"gene"},{"created":"2025-10-02T16:34:23.220664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3279","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1.\nSource Literature was added to DNM1.\nPublications for gene DNM1 were changed from 25262651; 27066543; 33372033; 34172529; 36553519; 37900685 to 25262651; 27066543; 33372033; 34172529; 36553519; 37900685","entity_name":"DNM1","entity_type":"gene"},{"created":"2025-10-02T16:34:22.740203+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.227","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNM1.\nSource Australian Genomics Health Alliance Epilepsy Flagship was removed from DNM1.\nSource Victorian Clinical Genetics Services was removed from DNM1.\nSource Literature was added to DNM1.\nPublications for gene DNM1 were changed from 25262651; 27066543; 33372033; 34172529; 36553519; 37900685 to 25262651; 27066543; 33372033; 34172529; 36553519; 37900685","entity_name":"DNM1","entity_type":"gene"},{"created":"2025-10-02T16:33:50.236943+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:33:24.352182+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 24886560; 21493627; 25920555","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:32:53.711351+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:32:53.700336+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:32:20.755664+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.88","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Meckel syndrome 9, MIM# 614209; Joubert syndrome 27, MIM# 617120 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:31:58.507999+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 24886560; 21493627; 25920555","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:31:26.805886+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B9D1 as Green List (high evidence)","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:31:26.796558+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b9d1 has been classified as Green List (High Evidence).","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:30:51.083408+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B9D1 were changed from Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209 to Ciliopathy, MONDO:0005308, B9D1-related","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:30:29.942612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B9D1 were set to 24886560; 21493627; 25920555; 21763481; 34338422","entity_name":"B9D1","entity_type":"gene"},{"created":"2025-10-02T16:29:47.143375+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF31 were set to 26008899; 30936877","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:29:11.826760+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3276","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF31 were set to 26008899; 30936877","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:29:10.359104+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.226","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DNAJC5 were changed from adult neuronal ceroid lipofuscinosis (MONDO:0019260) to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:28:54.913468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3275","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF31 as Green List (high evidence)","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:28:54.902605+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3275","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Green List (High Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:28:40.306049+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3274","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF31: Added comment: Two more families reported.; Changed rating: GREEN; Changed publications: 26008899, 30936877, 39009172, 41026334","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:28:38.823564+10:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"1.44","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DNAJC5.\nSource Victorian Clinical Genetics Services was removed from DNAJC5.\nSource Expert list was added to DNAJC5.\nMode of inheritance for gene DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DNAJC5 were changed from  to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083\nPublications for gene DNAJC5 were changed from 22978711; 21820099; 22235333; 31919451; 26659577 to 22978711; 21820099; 22235333; 31919451; 26659577","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:28:16.975541+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3274","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNAJC5.\nSource Expert list was added to DNAJC5.\nPhenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350; ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083 to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:28:10.878098+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF31 as Green List (high evidence)","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:28:10.868524+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Green List (High Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:27:49.789095+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RNF31: Added comment: Two more families reported.; Changed rating: GREEN; Changed publications: 26008899, 30936877, 39009172, 41026334","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:27:19.332826+10:00","panel_name":"Progressive Myoclonic Epilepsy","panel_id":331,"panel_version":"0.22","user_name":"Chirag Patel","item_type":"entity","text":"Source Royal Melbourne Hospital was removed from DNAJC5.\nSource Expert list was added to DNAJC5.\nPhenotypes for gene: DNAJC5 were changed from autosomal dominant Kufs disease; generalized tonic clonic seizures; Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:26:37.920223+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF31 were set to 26008899; 30936877","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:26:31.865234+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"1.23","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DNAJC5.\nSource Expert list was added to DNAJC5.\nPhenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350; MONDO:0008083 to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:26:20.613413+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.40","user_name":"Chirag Patel","item_type":"entity","text":"Source Melbourne Genomics Health Alliance Complex Neurology Flagship was removed from DNAJC5.\nSource Victorian Clinical Genetics Services was removed from DNAJC5.\nSource Expert list was added to DNAJC5.\nPhenotypes for gene: DNAJC5 were changed from Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350 to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083","entity_name":"DNAJC5","entity_type":"gene"},{"created":"2025-10-02T16:25:57.195061+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF31 as Green List (high evidence)","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:25:57.184809+10:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf31 has been classified as Green List (High Evidence).","entity_name":"RNF31","entity_type":"gene"},{"created":"2025-10-02T16:20:58.351008+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.425","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RASA2 were changed from Noonan syndrome to Noonan syndrome MONDO:0018997, RASA2-related","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:42.744619+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.424","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:28.716897+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RASA2 as ready","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:28.709532+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rasa2 has been classified as Amber List (Moderate Evidence).","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:26.648341+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RASA2 were changed from Noonan syndrome? to Noonan syndrome MONDO:0018997, RASA2-related","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:17.937093+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:20:02.042492+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RASA2 were changed from Rasopathy to Noonan syndrome MONDO:0018997, RASA2-related","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:19:35.521808+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RASA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome MONDO:0018997, RASA2-related; Mode of inheritance: None","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:19:15.211283+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3273","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RASA2 were changed from  to Noonan syndrome MONDO:0018997, RASA2-related","entity_name":"RASA2","entity_type":"gene"},{"created":"2025-10-02T16:18:09.655111+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.217","user_name":"Chirag Patel","item_type":"entity","text":"edited their review of gene: DEAF1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DEAF1","entity_type":"gene"},{"created":"2025-10-02T16:17:57.165899+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.225","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DEAF1 were changed from Dyskinesia, seizures, and intellectual developmental disorder 617171; autosomal dominant mental retardation 24, MIM# 615828 to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828","entity_name":"DEAF1","entity_type":"gene"},{"created":"2025-10-02T16:17:25.398784+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.217","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DEAF1.\nSource Expert list was added to DEAF1.\nMode of inheritance for gene DEAF1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: DEAF1 were changed from  to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171; Vulto-van Silfout-de Vries syndrome 615828\nPublications for gene DEAF1 were changed from 30923367, 24726472 to 30923367, 24726472","entity_name":"DEAF1","entity_type":"gene"},{"created":"2025-10-02T16:16:34.105788+10:00","panel_name":"Kabuki syndrome","panel_id":134,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1A were changed from Kabuki syndrome to Kabuki syndrome MONDO:0016512, RAP1A-related","entity_name":"RAP1A","entity_type":"gene"},{"created":"2025-10-02T16:16:29.247906+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.216","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30923367, 24726472; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures 617171, Vulto-van Silfout-de Vries syndrome 615828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DEAF1","entity_type":"gene"},{"created":"2025-10-02T16:16:11.083696+10:00","panel_name":"Kabuki syndrome","panel_id":134,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAP1A: Changed phenotypes: Kabuki syndrome MONDO:0016512, RAP1A-related","entity_name":"RAP1A","entity_type":"gene"},{"created":"2025-10-02T16:15:53.924540+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAP1A were changed from Kabuki syndrome to Kabuki syndrome MONDO:0016512, RAP1A-related","entity_name":"RAP1A","entity_type":"gene"},{"created":"2025-10-02T16:15:10.402965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3271","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAMP2 were changed from Primary open angle glaucoma to Open angle glaucoma MONDO:0005338, RAMP2-related","entity_name":"RAMP2","entity_type":"gene"},{"created":"2025-10-02T16:14:23.187170+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797","entity_name":"RALGAPA1","entity_type":"gene"},{"created":"2025-10-02T16:13:52.726892+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.321","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RALGAPA1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797","entity_name":"RALGAPA1","entity_type":"gene"},{"created":"2025-10-02T16:13:37.776724+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.224","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797","entity_name":"RALGAPA1","entity_type":"gene"},{"created":"2025-10-02T16:13:04.755560+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.223","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RALGAPA1: Changed phenotypes: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797","entity_name":"RALGAPA1","entity_type":"gene"},{"created":"2025-10-02T16:12:59.852494+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.321","user_name":"Chirag Patel","item_type":"entity","text":"Source Research was removed from DDB1.\nSource Literature was added to DDB1.\nPhenotypes for gene: DDB1 were changed from White-Kernohan syndrome, MIM# 619426; Syndromic intellectual disability to White-Kernohan syndrome, MIM# 619426","entity_name":"DDB1","entity_type":"gene"},{"created":"2025-10-02T16:12:41.252112+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3270","user_name":"Chirag Patel","item_type":"entity","text":"Source Victorian Clinical Genetics Services was removed from DDB1.\nSource Literature was added to DDB1.\nPhenotypes for gene: DDB1 were changed from White-Kernohan syndrome, MIM#\t619426; Syndromic intellectual disability to White-Kernohan syndrome, MIM#\t619426","entity_name":"DDB1","entity_type":"gene"},{"created":"2025-10-02T16:12:40.494970+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RALGAPA1 were changed from Intellectual disability; hypotonia; infantile spasms. to Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation MIM#618797","entity_name":"RALGAPA1","entity_type":"gene"},{"created":"2025-10-02T16:12:14.867154+10:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.54","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: C1GALT1C1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36599939, 37216524; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM#301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"C1GALT1C1","entity_type":"gene"},{"created":"2025-10-02T16:11:12.637838+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG2 were changed from Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 to Recombinase activating gene 2 deficiency MONDO:0000573","entity_name":"RAG2","entity_type":"gene"},{"created":"2025-10-02T16:10:59.510165+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAG2: Changed phenotypes: Recombinase activating gene 2 deficiency MONDO:0000573","entity_name":"RAG2","entity_type":"gene"},{"created":"2025-10-02T16:09:55.879598+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG2 were changed from Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 to Recombinase activating gene 2 deficiency MONDO:0000573","entity_name":"RAG2","entity_type":"gene"},{"created":"2025-10-02T16:09:30.813051+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Recombinase activating gene 2 deficiency MONDO:0000573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAG2","entity_type":"gene"},{"created":"2025-10-02T16:09:01.946098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3269","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG2 were changed from Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457; Combined cellular and humoral immune defects with granulomas MIM# 233650 to Recombinase activating gene 2 deficiency MONDO:0000573","entity_name":"RAG2","entity_type":"gene"},{"created":"2025-10-02T16:08:07.518997+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG1 were changed from Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457 to Recombinase activating gene 1 deficiency MONDO:0000572","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-10-02T16:07:52.901271+10:00","panel_name":"Genomic newborn screening: BabyScreen+","panel_id":3931,"panel_version":"1.137","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAG1: Changed phenotypes: Recombinase activating gene 1 deficiency MONDO:0000572","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-10-02T16:06:46.950133+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG1 were changed from Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457 to Recombinase activating gene 1 deficiency MONDO:0000572","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-10-02T16:06:19.301084+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Recombinase activating gene 1 deficiency MONDO:0000572; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-10-02T16:05:50.842984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3268","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAG1 were changed from Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457 to Recombinase activating gene 1 deficiency MONDO:0000572","entity_name":"RAG1","entity_type":"gene"},{"created":"2025-10-02T16:04:36.281456+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.424","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:04:22.877699+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.423","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:04:07.860752+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:04:01.082666+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"entity","text":"Source Other was removed from DNM2.\nPhenotypes for gene: DNM2 were changed from Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048) to Autosomal dominant centronuclear myopathy MONDO:0008048","entity_name":"DNM2","entity_type":"gene"},{"created":"2025-10-02T16:03:35.716737+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:03:25.860304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3267","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674; Centronuclear myopathy 1, MIM# 160150; Lethal congenital contracture syndrome 5, MIM# 615368 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674; Autosomal dominant centronuclear myopathy MONDO:0008048; Lethal congenital contracture syndrome 5, MIM# 615368","entity_name":"DNM2","entity_type":"gene"},{"created":"2025-10-02T16:03:17.228330+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:02:50.651237+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.340","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:02:35.332740+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM# 617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:02:10.277975+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAC1: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:01:52.848982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3266","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC1 were changed from Mental retardation, autosomal dominant 48, MIM#\t617751 to Intellectual developmental disorder, autosomal dominant 48 MIM#617751","entity_name":"RAC1","entity_type":"gene"},{"created":"2025-10-02T16:01:39.382638+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.391","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: DNM2 were changed from Charcot-Marie-Tooth disease, axonal type 2M, MIM#606482 to Cerebral palsy MONDO:0006497","entity_name":"DNM2","entity_type":"gene"}]}