{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=544","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=542","results":[{"created":"2023-10-03T12:38:45.132311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM#\t309580 to ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2023-10-03T12:38:15.420656+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM#\t309580 to ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2023-10-03T12:37:43.203822+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.189","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2023-10-03T12:37:26.954361+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2023-10-03T12:37:14.571655+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980","entity_name":"ATRX","entity_type":"gene"},{"created":"2023-10-03T10:29:28.139625+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.232","user_name":"Lauren Rogers","item_type":"entity","text":"gene: DDX3X was added\ngene: DDX3X was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: DDX3X were set to 26235985\nPhenotypes for gene: DDX3X were set to Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)\nReview for gene: DDX3X was set to GREEN\nAdded comment: PMID: 26235985 - microcephaly seen in 12/38 females with de novo DDX3X variants \nSources: Literature","entity_name":"DDX3X","entity_type":"gene"},{"created":"2023-10-02T18:48:30.347904+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations","entity_name":"DLG5","entity_type":"gene"},{"created":"2023-10-02T18:47:45.575698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1244","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations","entity_name":"DLG5","entity_type":"gene"},{"created":"2023-10-02T18:38:55.666618+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.189","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related","entity_name":"DHX32","entity_type":"gene"},{"created":"2023-10-02T18:38:16.036510+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5506","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related","entity_name":"DHX32","entity_type":"gene"},{"created":"2023-10-02T18:37:28.158593+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related","entity_name":"DHX32","entity_type":"gene"},{"created":"2023-10-02T18:21:13.716294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DGAT2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related","entity_name":"DGAT2","entity_type":"gene"},{"created":"2023-10-02T18:19:05.876340+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX54 were changed from Intellectual disability; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, DDX54-related","entity_name":"DDX54","entity_type":"gene"},{"created":"2023-10-02T18:18:41.769424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1240","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDX54: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX54-related","entity_name":"DDX54","entity_type":"gene"},{"created":"2023-10-02T18:17:51.834943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related","entity_name":"DDX23","entity_type":"gene"},{"created":"2023-10-02T18:17:29.454651+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1239","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related","entity_name":"DDX23","entity_type":"gene"},{"created":"2023-10-02T18:17:07.898928+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5505","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related","entity_name":"DDX23","entity_type":"gene"},{"created":"2023-10-02T18:16:33.237128+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5504","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related","entity_name":"DDX23","entity_type":"gene"},{"created":"2023-10-02T18:04:32.034171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related","entity_name":"CSNK1G1","entity_type":"gene"},{"created":"2023-10-02T18:04:11.157053+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1238","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSNK1G1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related","entity_name":"CSNK1G1","entity_type":"gene"},{"created":"2023-10-02T18:02:57.187074+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5504","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of the face; Abnromality of limbs to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related","entity_name":"CSNK1G1","entity_type":"gene"},{"created":"2023-10-01T13:42:14.373118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2023-10-01T13:41:49.737261+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1237","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPTAN1: Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related, Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2023-09-29T17:47:09.361685+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related","entity_name":"DAZL","entity_type":"gene"},{"created":"2023-09-29T17:46:36.515009+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related","entity_name":"DAZL","entity_type":"gene"},{"created":"2023-09-29T17:44:09.815079+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related","entity_name":"DACH2","entity_type":"gene"},{"created":"2023-09-29T17:43:39.965894+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related","entity_name":"DACH2","entity_type":"gene"},{"created":"2023-09-29T17:02:24.049336+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related","entity_name":"CYBRD1","entity_type":"gene"},{"created":"2023-09-29T17:02:05.125559+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related","entity_name":"CYBRD1","entity_type":"gene"},{"created":"2023-09-29T17:01:46.209291+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related","entity_name":"CYBRD1","entity_type":"gene"},{"created":"2023-09-29T17:01:26.897399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1234","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related","entity_name":"CYBRD1","entity_type":"gene"},{"created":"2023-09-29T16:57:31.584541+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5503","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related","entity_name":"CTNND2","entity_type":"gene"},{"created":"2023-09-29T16:56:26.710686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1234","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related","entity_name":"CTNND2","entity_type":"gene"},{"created":"2023-09-29T16:55:03.565364+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1233","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTNNBL1 were changed from Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency to Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846","entity_name":"CTNNBL1","entity_type":"gene"},{"created":"2023-09-29T16:54:40.584941+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1232","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CTNNBL1: Changed phenotypes: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846","entity_name":"CTNNBL1","entity_type":"gene"},{"created":"2023-09-29T16:42:02.814619+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1232","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2023-09-29T16:41:33.282999+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2023-09-29T16:40:55.041511+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1922","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSNK1E: Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related","entity_name":"CSNK1E","entity_type":"gene"},{"created":"2023-09-29T16:39:04.798297+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSGALNACT1 were changed from Congenital disorder of glycosylation; skeletal dysplasia to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:38:22.371385+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSGALNACT1: Changed phenotypes: Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:37:58.109925+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSGALNACT1 as ready","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:37:58.094993+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csgalnact1 has been classified as Green List (High Evidence).","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:37:53.685576+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSGALNACT1 as Green List (high evidence)","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:37:53.676483+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csgalnact1 has been classified as Green List (High Evidence).","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:37:14.354467+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CSGALNACT1 was added\ngene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSGALNACT1 were set to 31705726; 31325655\nPhenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870\nReview for gene: CSGALNACT1 was set to GREEN\nAdded comment: Four families reported. \nSources: Expert Review","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:34:52.399988+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSGALNACT1 were changed from Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:34:27.137630+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1230","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSGALNACT1: Changed phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870","entity_name":"CSGALNACT1","entity_type":"gene"},{"created":"2023-09-29T16:33:15.754409+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related","entity_name":"CSDE1","entity_type":"gene"},{"created":"2023-09-29T16:32:39.959028+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related","entity_name":"CSDE1","entity_type":"gene"},{"created":"2023-09-29T16:32:24.500658+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5502","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related","entity_name":"CSDE1","entity_type":"gene"},{"created":"2023-09-29T16:31:39.760028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related","entity_name":"CSDE1","entity_type":"gene"},{"created":"2023-09-29T16:31:19.809428+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1229","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related","entity_name":"CSDE1","entity_type":"gene"},{"created":"2023-09-29T16:21:59.313884+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCG2 as ready","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-29T16:21:59.280110+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcg2 has been classified as Green List (High Evidence).","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-29T16:21:55.103569+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCG2 were changed from Susceptibility to herpes virus to Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related; Susceptibility to herpes virus","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-29T16:21:23.470346+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCG2 as Green List (high evidence)","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-29T16:21:23.454248+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcg2 has been classified as Green List (High Evidence).","entity_name":"PLCG2","entity_type":"gene"},{"created":"2023-09-29T16:17:58.513754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASP4 as ready","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T16:17:58.497903+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp4 has been classified as Red List (Low Evidence).","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T14:56:05.705032+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: STIL as Amber List (moderate evidence)","entity_name":"STIL","entity_type":"gene"},{"created":"2023-09-29T14:56:05.693872+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: stil has been classified as Amber List (Moderate Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2023-09-29T14:55:45.210132+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: STIL as Amber List (moderate evidence)","entity_name":"STIL","entity_type":"gene"},{"created":"2023-09-29T14:55:45.173767+10:00","panel_name":"Holoprosencephaly and septo-optic dysplasia","panel_id":112,"panel_version":"1.9","user_name":"Chirag Patel","item_type":"entity","text":"Gene: stil has been classified as Amber List (Moderate Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2023-09-29T13:00:45.934958+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1229","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CASP4 was added\ngene: CASP4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP4 were set to 37647624\nPhenotypes for gene: CASP4 were set to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis\nReview for gene: CASP4 was set to RED\nAdded comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support. Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis. \nSources: Expert Review","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:57:08.934686+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CASP4 as ready","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:57:08.914473+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp4 has been classified as Red List (Low Evidence).","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:56:42.204752+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:55:54.730660+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CASP4 as Red List (low evidence)","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:55:54.710470+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: casp4 has been classified as Red List (Low Evidence).","entity_name":"CASP4","entity_type":"gene"},{"created":"2023-09-29T12:54:28.110048+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-29T12:53:08.352899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-29T12:52:47.913908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1226","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL36RN: Added comment: Monoallelic disease: Multiple patients with systemic inflammation with monoallelic variants in IL36RN suggesting a gene dosage effect whereby GPP onset is significantly delayed in subjects with monoallelic mutations but still at high risk of systemic inflammation.; Changed publications: 21848462, 21839423, 22903787, 23648549, 25458002; Changed phenotypes: Psoriasis 14, pustular, MIM# 614204, Autoinflammatory syndrome, MONDO:0019751, IL36RN-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-29T12:52:16.384886+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-29T12:51:18.886636+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IL36RN","entity_type":"gene"},{"created":"2023-09-29T12:50:14.511968+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5501","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSEN54 as ready","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-29T12:50:14.498189+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5501","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsen54 has been classified as Green List (High Evidence).","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-29T12:50:09.597360+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5501","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSEN54 were changed from  to pontocerebellar hypoplasia type 2A MONDO:0010190","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-29T12:49:36.158922+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5500","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSEN54 were set to ","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-29T12:48:31.023729+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5499","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSEN54","entity_type":"gene"},{"created":"2023-09-29T12:47:40.336900+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5498","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSFM as ready","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:47:40.298978+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5498","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tsfm has been classified as Green List (High Evidence).","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:47:29.215238+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5498","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSFM were changed from  to Combined oxidative phosphorylation deficiency 3, MIM#610505","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:46:56.630719+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5497","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSFM were set to ","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:46:23.294923+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5496","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:45:49.670935+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5495","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSFM","entity_type":"gene"},{"created":"2023-09-29T12:45:16.995397+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5495","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TSHB as ready","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:45:16.985777+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5495","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tshb has been classified as Green List (High Evidence).","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:45:11.877776+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5495","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TSHB were changed from  to Central congenital hypothyroidism Orphanet:226298","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:44:35.389674+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5494","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TSHB were set to ","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:43:43.961437+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5493","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:43:09.821126+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5492","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central congenital hypothyroidism Orphanet:226298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TSHB","entity_type":"gene"},{"created":"2023-09-29T12:42:05.939493+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1B2 as ready","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2023-09-29T12:42:05.926101+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b2 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2023-09-29T12:42:01.106883+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1B2 as Green List (high evidence)","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2023-09-29T12:42:01.097634+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b2 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2023-09-29T12:41:13.801191+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LMX1B as ready","entity_name":"LMX1B","entity_type":"gene"},{"created":"2023-09-29T12:41:13.791325+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1b has been classified as Green List (High Evidence).","entity_name":"LMX1B","entity_type":"gene"},{"created":"2023-09-29T12:41:10.377166+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 to Nail-patella syndrome (MIM#161200), MONDO:0008061","entity_name":"LMX1B","entity_type":"gene"},{"created":"2023-09-29T12:40:38.153391+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LMX1B as Green List (high evidence)","entity_name":"LMX1B","entity_type":"gene"},{"created":"2023-09-29T12:40:38.144171+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lmx1b has been classified as Green List (High Evidence).","entity_name":"LMX1B","entity_type":"gene"}]}