{"count":220917,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=713","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=711","results":[{"created":"2022-10-15T17:40:25.167077+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL36RN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2022-10-15T17:39:49.869451+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL36RN: Rating: GREEN; Mode of pathogenicity: None; Publications: 21848462, 21839423, 22903787; Phenotypes: Psoriasis 14, pustular, MIM# 614204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2022-10-15T17:38:10.489920+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELANE as ready","entity_name":"ELANE","entity_type":"gene"},{"created":"2022-10-15T17:38:10.478823+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elane has been classified as Green List (High Evidence).","entity_name":"ELANE","entity_type":"gene"},{"created":"2022-10-15T17:38:08.069973+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELANE were changed from  to Neutropenia, cyclic MIM#162800","entity_name":"ELANE","entity_type":"gene"},{"created":"2022-10-15T17:37:43.044399+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ELANE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELANE","entity_type":"gene"},{"created":"2022-10-15T17:37:15.513443+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, cyclic MIM#162800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ELANE","entity_type":"gene"},{"created":"2022-10-15T17:36:26.649106+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARD14 as ready","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:36:26.639863+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card14 has been classified as Green List (High Evidence).","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:36:24.040798+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARD14 were changed from  to Psoriasis 2, MIM# 602723","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:35:53.551539+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CARD14 were set to ","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:35:28.458804+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CARD14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:35:02.034558+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CARD14: Rating: GREEN; Mode of pathogenicity: None; Publications: 34118208, 31286971, 30783801; Phenotypes: Psoriasis 2, MIM# 602723; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CARD14","entity_type":"gene"},{"created":"2022-10-15T17:31:06.904452+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADA2 as ready","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:31:06.893748+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ada2 has been classified as Green List (High Evidence).","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:30:58.043845+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADA2 were changed from  to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:30:23.328401+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADA2 were set to ","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:29:58.640678+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:29:26.267791+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24552284, 24552285; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome 615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADA2","entity_type":"gene"},{"created":"2022-10-15T17:26:20.125774+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Fever HP:0001945","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:25:16.523006+11:00","panel_name":"Tremors_Superpanel","panel_id":3531,"panel_version":"1.214","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Tremor HP:0001337","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:24:34.501909+11:00","panel_name":"Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Focal cortical dysplasia HP:0032046;Hemimegalencephaly HP:0007206","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:22:58.823592+11:00","panel_name":"Vascular Malformations_Somatic","panel_id":3181,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Abnormal vascular morphology HP:0025015","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:22:36.935481+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Abnormal vascular morphology HP:0025015","entity_name":null,"entity_type":null},{"created":"2022-10-15T14:57:44.187213+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-15T14:57:44.178193+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-15T14:57:27.187263+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1793","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GBA were changed from  to Gaucher disease, perinatal lethal, MIM# 608013; Gaucher disease, type I, MIM# 230800; Gaucher disease, type II, MIM# 230900; Gaucher disease, type III, MIM# 231000; Gaucher disease, type IIIC, MIM# 231005","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-15T14:56:45.422767+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1792","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-15T14:56:05.195142+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, perinatal lethal, MIM# 608013, Gaucher disease, type I, MIM# 230800, Gaucher disease, type II, MIM# 230900, Gaucher disease, type III, MIM# 231000, Gaucher disease, type IIIC, MIM# 231005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GBA","entity_type":"gene"},{"created":"2022-10-15T14:54:13.881505+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2B5 as ready","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:54:13.872364+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2b5 has been classified as Green List (High Evidence).","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:54:10.519033+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1791","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EIF2B5 were changed from  to leukoencephalopathy with vanishing white matter MONDO:0011380","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:53:32.800509+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1790","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2B5 were set to 11704758; 12325082; 12707859; 14694060; 15136689; 18263758; 25843247; 25761052","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:52:37.648802+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1789","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EIF2B5 were set to ","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:51:59.269465+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1788","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T14:51:26.675236+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2022-10-15T13:02:00.438432+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNKSR2 were changed from Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008 to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T13:01:44.856438+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CNKSR2 as ready","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T13:01:44.848964+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cnksr2 has been classified as Green List (High Evidence).","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T13:01:14.167384+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1787","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CNKSR2 were changed from  to Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T13:00:03.935647+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1786","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CNKSR2 were set to ","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T12:59:23.755877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1785","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CNKSR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CNKSR2","entity_type":"gene"},{"created":"2022-10-15T12:58:28.232445+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN8 as ready","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-15T12:58:28.223765+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln8 has been classified as Green List (High Evidence).","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-15T12:58:25.145923+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN8 were changed from  to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-15T12:57:49.163436+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN8 were set to ","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-15T12:57:08.492261+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN8","entity_type":"gene"},{"created":"2022-10-15T12:42:57.409708+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN3 as ready","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:42:57.401272+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Green List (High Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:42:50.638505+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1781","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLN3 were changed from  to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:42:11.313999+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1780","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLN3 were set to ","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:41:41.561420+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1779","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:41:07.041598+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1778","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Seizures are part of the phenotype of this progressive neurometabolic disorder.","entity_name":"CLN3","entity_type":"gene"},{"created":"2022-10-15T12:39:28.515727+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1778","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CC2D2A as ready","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:39:28.506916+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1778","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d2a has been classified as Green List (High Evidence).","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:39:21.368873+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1778","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CC2D2A were changed from  to Joubert syndrome 9, MIM#612285","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:38:25.361562+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1777","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CC2D2A were set to ","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:37:46.122905+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1776","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:37:12.910072+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1775","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CC2D2A: Seizures are a feature particularly of JBTS.","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2022-10-15T12:36:18.153655+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1775","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASK as ready","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:36:18.138478+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1775","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Green List (High Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:36:10.349332+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1775","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASK were changed from  to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:35:31.166508+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1774","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CASK were set to ","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:35:01.097625+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1773","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:34:26.584620+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1772","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia, MIM# 300749; 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":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:33:01.557113+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1772","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA2D1 as ready","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-10-15T12:33:01.540141+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1772","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna2d1 has been classified as Green List (High Evidence).","entity_name":"CACNA2D1","entity_type":"gene"},{"created":"2022-10-15T12:28:20.973305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBL as ready","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:28:20.963491+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbl has been classified as Red List (Low Evidence).","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:28:17.561487+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:28:04.887959+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CBL as Red List (low evidence)","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:28:04.879222+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbl has been classified as Red List (Low Evidence).","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:27:52.533328+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2022-10-15T12:26:03.250010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASQ2 as ready","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:26:03.234541+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casq2 has been classified as Red List (Low Evidence).","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:25:59.389293+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASQ2 were changed from Ventricular tachycardia, catecholaminergic polymorphic to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:25:48.443746+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASQ2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:25:26.022252+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.569","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASQ2 as Red List (low evidence)","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:25:26.005821+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.569","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casq2 has been classified as Red List (Low Evidence).","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:24:36.538034+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CASQ2.","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:24:23.814248+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: CASQ2.\nTag treatable tag was added to gene: CASQ2.","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:24:11.095951+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASQ2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASQ2","entity_type":"gene"},{"created":"2022-10-15T12:18:33.181904+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASK as ready","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:18:33.172579+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Red List (Low Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:18:29.250495+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.568","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASK were changed from Mental retardation and microcephaly with pontine and cerebellar hypoplasia to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:18:16.877543+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.567","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CASK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:18:06.932557+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASK as Red List (low evidence)","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:18:06.922956+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.566","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cask has been classified as Red List (Low Evidence).","entity_name":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:17:54.995098+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; 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":"CASK","entity_type":"gene"},{"created":"2022-10-15T12:16:02.069766+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CARD11 as ready","entity_name":"CARD11","entity_type":"gene"},{"created":"2022-10-15T12:16:02.052748+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: card11 has been classified as Green List (High Evidence).","entity_name":"CARD11","entity_type":"gene"},{"created":"2022-10-15T12:15:58.604191+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.565","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, MIM#\t615206 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638","entity_name":"CARD11","entity_type":"gene"},{"created":"2022-10-15T12:15:41.807552+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CARD11","entity_type":"gene"},{"created":"2022-10-15T11:47:47.669280+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:47:47.659918+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Red List (Low Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:47:40.305382+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.564","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHD7 were changed from CHARGE syndrome to CHARGE syndrome, MIM# 214800","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:47:28.369827+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD7 as Red List (low evidence)","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:47:28.361568+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Red List (Low Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:47:17.715729+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.562","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD7","entity_type":"gene"},{"created":"2022-10-15T11:46:08.849877+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CA2 as ready","entity_name":"CA2","entity_type":"gene"}]}