{"count":220460,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1287","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1285","results":[{"created":"2021-06-24T11:43:59.541163+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.92","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2021-06-24T11:42:02.111840+10:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.6","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: NDUFB11: Rating: AMBER; Mode of pathogenicity: None; Publications: 27488349; Phenotypes: Anaemia, XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDUFB11","entity_type":"gene"},{"created":"2021-06-24T09:57:22.142126+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1121","user_name":"Elena Savva","item_type":"entity","text":"gene: PPP2R1A was added\ngene: PPP2R1A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R1A were set to PMID: 33106617; 26168268\nPhenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362\nMode of pathogenicity for gene: PPP2R1A was set to Other\nReview for gene: PPP2R1A was set to GREEN\nAdded comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).\r\n\r\n10/26 patients were reported with epilepsy, interestingly none also presented with macrocephaly (otherwise observed in 38% of the cohort) \nSources: Literature","entity_name":"PPP2R1A","entity_type":"gene"},{"created":"2021-06-24T09:55:26.192223+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.26","user_name":"Elena Savva","item_type":"entity","text":"gene: PPP2R1A was added\ngene: PPP2R1A was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R1A were set to PMID: 33106617; 26168268\nPhenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362\nMode of pathogenicity for gene: PPP2R1A was set to Other\nReview for gene: PPP2R1A was set to GREEN\ngene: PPP2R1A was marked as current diagnostic\nAdded comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).\r\n\r\n11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense. \nSources: Literature","entity_name":"PPP2R1A","entity_type":"gene"},{"created":"2021-06-24T09:54:44.783067+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.79","user_name":"Elena Savva","item_type":"entity","text":"gene: PPP2R1A was added\ngene: PPP2R1A was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: PPP2R1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP2R1A were set to PMID: 33106617; 26168268\nPhenotypes for gene: PPP2R1A were set to Mental retardation, autosomal dominant 36 MIM#616362\nMode of pathogenicity for gene: PPP2R1A was set to Other\nReview for gene: PPP2R1A was set to GREEN\nAdded comment: Likely dominant negative. For some variants, binding assays using HEK293T cells transfected with either WT or mutant constructs demonstrated decreased binding to B subunit families or C subunit with corresponding decrease in PP2A activity by affecting the trimeric holoenzyme (hypothesized by authors) ((PMIDs: 26168268, 33106617).\r\n\r\n11/29 patients were macrocephalic, conversely 7/29 patients were microcephalic. All variants were in the same region and all were missense. \nSources: Literature","entity_name":"PPP2R1A","entity_type":"gene"},{"created":"2021-06-24T09:52:02.909533+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8100","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: PPP2R1A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 26168268, 33106617; Phenotypes: Mental retardation, autosomal dominant 36 MIM#616362; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"PPP2R1A","entity_type":"gene"},{"created":"2021-06-24T07:40:12.740750+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP3 as ready","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:40:12.729408+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp3 has been classified as Green List (High Evidence).","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:40:08.735543+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP3 were changed from  to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Meckel syndrome 7, MIM# 267010","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:39:37.000077+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.288","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP3 were set to ","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:39:12.704947+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.287","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:38:48.216993+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755, 18371931; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540, Meckel syndrome 7, MIM# 267010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:35:43.580103+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP3 as ready","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:35:43.562101+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp3 has been classified as Green List (High Evidence).","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:35:40.584779+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP3 were changed from  to Nephronophthisis 3, MIM# 604387; Renal-hepatic-pancreatic dysplasia 1, MIM# 208540","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:34:15.306300+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP3 were set to ","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:33:54.730996+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-24T07:33:28.748644+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19177160, 34013113, 33323469, 32341812, 28921755; Phenotypes: Nephronophthisis 3, MIM# 604387, Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2021-06-23T20:57:00.562788+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:57:00.553305+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:56:57.760710+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.636","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from  to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:56:31.825861+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.635","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPB were set to ","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:55:49.412609+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.634","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:55:23.447486+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.633","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:54:44.738301+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:54:44.726858+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:54:41.676667+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from  to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:54:12.077293+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPB were set to ","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:53:43.619540+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:53:10.445070+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:51.212841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:51.203531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:44.825550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from  to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:13.754353+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLPB as ready","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:13.743557+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clpb has been classified as Green List (High Evidence).","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:41:12.437348+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8099","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPB were set to ","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:40:53.948070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8098","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:40:34.463873+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8097","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:40:29.830246+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLPB were changed from  to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:39:46.564526+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3888","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLPB were set to ","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:38:54.399797+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3887","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T20:38:19.378522+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLPB","entity_type":"gene"},{"created":"2021-06-23T19:22:55.170555+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381","entity_name":"SYK","entity_type":"gene"},{"created":"2021-06-23T19:22:16.788403+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYK","entity_type":"gene"},{"created":"2021-06-23T19:21:40.507790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8097","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYK were changed from Immune dysregulation and systemic inflammation to Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381","entity_name":"SYK","entity_type":"gene"},{"created":"2021-06-23T19:21:13.108543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8096","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency-82 with systemic inflammation (IMD82) , MIM#619381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYK","entity_type":"gene"},{"created":"2021-06-23T17:28:41.212700+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2CD3 as ready","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:28:41.203871+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2cd3 has been classified as Green List (High Evidence).","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:28:38.767913+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from  to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:28:14.560501+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.285","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2CD3 were set to ","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:27:43.239982+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.284","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:27:09.999495+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:26:26.889034+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2CD3 as ready","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:26:26.878665+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2cd3 has been classified as Green List (High Evidence).","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:25:28.527727+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from  to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:25:00.990950+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2CD3 were set to ","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:24:39.203014+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:24:14.108946+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24997988, 26477546, 27094867, 30097616, 33875766; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948, MONDO:0014413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-06-23T17:18:17.772806+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8096","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PON1 as ready","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-23T17:18:17.757796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8096","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pon1 has been classified as Red List (Low Evidence).","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-23T17:18:06.845782+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8096","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PON1 were changed from  to {Coronary artery disease, susceptibility to}","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-23T16:51:14.755008+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.299","user_name":"Bryony Thompson","item_type":"entity","text":"Tag for review tag was added to gene: ROBO2.","entity_name":"ROBO2","entity_type":"gene"},{"created":"2021-06-23T16:01:17.996233+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTDP1 as Green List (high evidence)","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-06-23T16:01:17.983745+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctdp1 has been classified as Green List (High Evidence).","entity_name":"CTDP1","entity_type":"gene"},{"created":"2021-06-23T15:53:57.912021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8095","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PON1 as Red List (low evidence)","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-23T15:53:57.902665+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pon1 has been classified as Red List (Low Evidence).","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-23T15:53:39.806842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8094","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PON1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Coronary artery disease, susceptibility to}; Mode of inheritance: None","entity_name":"PON1","entity_type":"gene"},{"created":"2021-06-22T18:40:22.342952+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRB as ready","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:40:22.332958+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:40:17.026354+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFRB as Green List (high evidence)","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:40:17.010576+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:40:11.433447+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: PDGFRB.","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:39:50.554766+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRB as ready","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:39:50.545619+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:39:43.967596+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFRB as Green List (high evidence)","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:39:43.957872+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:39:37.828652+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: PDGFRB.","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:38:55.823121+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDGFRB as ready","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:38:55.813749+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:38:45.166225+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDGFRB as Green List (high evidence)","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:38:45.155150+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdgfrb has been classified as Green List (High Evidence).","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T18:38:24.528251+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: PDGFRB.","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T10:56:24.240234+10:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.1","user_name":"Natasha Brown","item_type":"entity","text":"gene: PDGFRB was added\ngene: PDGFRB was added to Vascular Malformations_Germline. Sources: Literature\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFRB were set to PMID: 33683022; 32291752\nPhenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis\nMode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PDGFRB was set to GREEN\nAdded comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).  \r\nPMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm. \nSources: Literature","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T10:56:10.133342+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.18","user_name":"Natasha Brown","item_type":"entity","text":"gene: PDGFRB was added\ngene: PDGFRB was added to Cerebral vascular malformations. Sources: Literature\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis\nMode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PDGFRB was set to GREEN\nAdded comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).  \r\nPMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm. \nSources: Literature","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T10:54:10.672582+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"1.3","user_name":"Natasha Brown","item_type":"entity","text":"gene: PDGFRB was added\ngene: PDGFRB was added to Stroke. Sources: Literature\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFRB were set to PMID: 33683022; 32291752\nPhenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis\nMode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PDGFRB was set to GREEN\nAdded comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).  \r\nPMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm. \nSources: Literature","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T10:52:56.893958+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.39","user_name":"Natasha Brown","item_type":"entity","text":"gene: PDGFRB was added\ngene: PDGFRB was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDGFRB were set to PMID: 33683022; 32291752\nPhenotypes for gene: PDGFRB were set to aneurysm; scoliosis; atrophic skin; stroke; infantile myofibromatosis\nMode of pathogenicity for gene: PDGFRB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PDGFRB was set to GREEN\nAdded comment: PMID: 33683022 describes 2 new cases of somatic mosaic variants in this gene with connective tissue/Marfanoid/progeriod phenotypes plus overgrowth (multiple aneurysms, varicosities, increased skin elasticity, pulmonary cysts), the same missense variant present in both patients in tissue (PDGFRB (NM_002609.3) c.1685A > G, p.(Tyr562Cys)).  \r\nPMID: 32291752 Three unrelated cases with heterozygous activating germline variants reviewed with similar phenotypes to above including early onset stroke/aneurysm. \nSources: Literature","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2021-06-22T10:47:21.484751+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: APPL1 as ready","entity_name":"APPL1","entity_type":"gene"},{"created":"2021-06-22T10:47:21.470525+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: appl1 has been classified as Amber List (Moderate Evidence).","entity_name":"APPL1","entity_type":"gene"},{"created":"2021-06-22T10:47:17.442907+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: APPL1 were set to ","entity_name":"APPL1","entity_type":"gene"},{"created":"2021-06-22T10:47:07.962801+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: APPL1 as Amber List (moderate evidence)","entity_name":"APPL1","entity_type":"gene"},{"created":"2021-06-22T10:47:07.953200+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: appl1 has been classified as Amber List (Moderate Evidence).","entity_name":"APPL1","entity_type":"gene"},{"created":"2021-06-22T10:46:38.328166+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: KLF11 were set to ","entity_name":"KLF11","entity_type":"gene"},{"created":"2021-06-22T10:46:20.678953+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KLF11 as Amber List (moderate evidence)","entity_name":"KLF11","entity_type":"gene"},{"created":"2021-06-22T10:46:20.668174+10:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: klf11 has been classified as Amber List (Moderate Evidence).","entity_name":"KLF11","entity_type":"gene"},{"created":"2021-06-22T06:56:45.368273+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: CCD as Amber List (moderate evidence)","entity_name":"CCD","entity_type":"str"},{"created":"2021-06-22T06:56:45.358028+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.47","user_name":"Bryony Thompson","item_type":"entity","text":"Str: ccd has been classified as Amber List (Moderate Evidence).","entity_name":"CCD","entity_type":"str"},{"created":"2021-06-22T06:56:36.497248+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.46","user_name":"Bryony Thompson","item_type":"entity","text":"STR: CCD was added\nSTR: CCD was added to Repeat Disorders. Sources: Expert list\nMode of inheritance for STR: CCD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: CCD were set to 9182765; 33811808; 20560987; 26220009; 25852448\nPhenotypes for STR: CCD were set to Cleidocranial dysplasia MIM#119600\nReview for STR: CCD was set to AMBER\nAdded comment: NM_001024630.4(RUNX2):c.231_233[x]\r\nExpected mechanism of disease is polyAlanine tract associated with dominant-negative effect or leading to a loss of function of the protein.\r\nOnly identified 2 reported polyAla repeat expansions in the literature. One family reported with 27 Ala repeats and one case reported with 20 Ala repeats (with supporting in vitro functional assay evidence). Also at least one case reported with expansion of the upstream glutamine repeat. \nSources: Expert list","entity_name":"CCD","entity_type":"str"},{"created":"2021-06-22T06:15:39.268778+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.45","user_name":"Bryony Thompson","item_type":"panel","text":"removed STR:BCCD from the panel","entity_name":null,"entity_type":null},{"created":"2021-06-21T21:19:36.884068+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCB4 as ready","entity_name":"ABCB4","entity_type":"gene"},{"created":"2021-06-21T21:19:36.873669+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcb4 has been classified as Green List (High Evidence).","entity_name":"ABCB4","entity_type":"gene"}]}