{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=909","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=907","results":[{"created":"2022-03-28T15:18:19.955657+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4623","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NRXN1 were set to ","entity_name":"NRXN1","entity_type":"gene"},{"created":"2022-03-28T15:17:47.066864+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4622","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NRXN1","entity_type":"gene"},{"created":"2022-03-28T15:16:15.368774+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEMD3 were changed from Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700 to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:16:14.887782+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LEMD3 as ready","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:16:14.876585+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lemd3 has been classified as Green List (High Evidence).","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:15:54.548308+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LEMD3 were changed from  to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:15:38.792350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12126","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CALM2 were changed from  to Long QT syndrome 15 MIM#616249; CPVT","entity_name":"CALM2","entity_type":"gene"},{"created":"2022-03-28T15:15:28.732190+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12125","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CALM2 were set to ","entity_name":"CALM2","entity_type":"gene"},{"created":"2022-03-28T15:15:00.275408+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12125","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM2","entity_type":"gene"},{"created":"2022-03-28T15:14:43.938135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12124","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CALM2","entity_type":"gene"},{"created":"2022-03-28T15:14:13.440417+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LEMD3 were set to ","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:13:19.429376+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:12:50.199043+11:00","panel_name":"Osteopetrosis","panel_id":150,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LEMD3","entity_type":"gene"},{"created":"2022-03-28T15:12:22.800138+11:00","panel_name":"Catecholaminergic Polymorphic Ventricular Tachycardia","panel_id":92,"panel_version":"0.32","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM2","entity_type":"gene"},{"created":"2022-03-28T15:10:46.364643+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12124","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CALM1 as ready","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:10:46.354769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12124","user_name":"Ain Roesley","item_type":"entity","text":"Gene: calm1 has been classified as Green List (High Evidence).","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:09:14.745874+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC17A5 as ready","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-03-28T15:09:14.734198+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc17a5 has been classified as Green List (High Evidence).","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-03-28T15:08:59.637622+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC17A5 were changed from  to Sialic acid storage disorder, infantile, MIM#\t269920","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-03-28T15:08:36.614479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12124","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CALM1 were changed from  to Long QT syndrome 14 MIM#616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:08:22.362864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12123","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CALM1 were set to ","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:08:17.745236+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12123","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:08:16.006189+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC17A5 were set to ","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-03-28T15:07:35.687608+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12122","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31170290; Phenotypes: Long QT syndrome 14 MIM#616247, Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"CALM1","entity_type":"gene"},{"created":"2022-03-28T15:06:55.343192+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2022-03-28T15:06:10.647333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NRL as ready","entity_name":"NRL","entity_type":"gene"},{"created":"2022-03-28T15:06:10.633819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nrl has been classified as Green List (High Evidence).","entity_name":"NRL","entity_type":"gene"},{"created":"2022-03-28T15:06:02.103687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NRL were changed from  to Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type","entity_name":"NRL","entity_type":"gene"},{"created":"2022-03-28T15:05:40.624989+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NRL were set to ","entity_name":"NRL","entity_type":"gene"},{"created":"2022-03-28T15:05:20.433540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12120","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NRL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NRL","entity_type":"gene"},{"created":"2022-03-28T15:04:59.165471+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12119","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:40.646390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12118","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA2D4 were changed from  to Retinal cone dystrophy 4 MIM#610478","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:33.552325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12118","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CACNA2D4 as ready","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:33.538449+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12118","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cacna2d4 has been classified as Green List (High Evidence).","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:32.557613+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LDLRAP1 as ready","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:04:32.547301+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldlrap1 has been classified as Green List (High Evidence).","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:04:30.538319+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:04:25.516874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12118","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CACNA2D4 were set to ","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:24.377253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12118","user_name":"Ain Roesley","item_type":"entity","text":"Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:04:22.407584+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDLRAP1 were changed from HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:04:09.285242+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia to HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:04:02.689325+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12117","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CACNA2D4","entity_type":"gene"},{"created":"2022-03-28T15:03:59.298517+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDLRAP1 were set to ","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:03:47.308430+11:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:03:12.878697+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LDLRAP1 were set to ","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:02:41.458832+11:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LDLRAP1","entity_type":"gene"},{"created":"2022-03-28T15:00:34.053053+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LDHB.","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-03-28T14:56:23.128874+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LDHB as Green List (high evidence)","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-03-28T14:56:23.119660+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ldhb has been classified as Green List (High Evidence).","entity_name":"LDHB","entity_type":"gene"},{"created":"2022-03-28T14:54:13.779859+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12117","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR2F2 as ready","entity_name":"NR2F2","entity_type":"gene"},{"created":"2022-03-28T14:54:13.768860+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12117","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr2f2 has been classified as Green List (High Evidence).","entity_name":"NR2F2","entity_type":"gene"},{"created":"2022-03-28T14:54:03.311102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR2F2 were changed from  to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779","entity_name":"NR2F2","entity_type":"gene"},{"created":"2022-03-28T14:51:42.109903+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12116","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR2F2 were set to ","entity_name":"NR2F2","entity_type":"gene"},{"created":"2022-03-28T14:51:18.674557+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCP2 as ready","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:51:18.661298+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:51:15.254074+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCP2 were changed from  to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:50:31.618809+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFM as ready","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:50:31.609608+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tufm has been classified as Green List (High Evidence).","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:50:22.854360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12115","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SERAC1 as ready","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-03-28T14:50:22.840752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12115","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: serac1 has been classified as Green List (High Evidence).","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-03-28T14:47:19.465649+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12115","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SERAC1 were changed from  to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-03-28T14:46:23.635030+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.332","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CACNA2D2 as Green List (high evidence)","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:46:23.623288+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.332","user_name":"Ain Roesley","item_type":"entity","text":"Gene: cacna2d2 has been classified as Green List (High Evidence).","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:46:01.021020+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.331","user_name":"Ain Roesley","item_type":"entity","text":"gene: CACNA2D2 was added\ngene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629\nPhenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501\nReview for gene: CACNA2D2 was set to GREEN\ngene: CACNA2D2 was marked as current diagnostic\nAdded comment: 4 out of 6 families reported individuals <1 years old with ataxia \nSources: Literature","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:44:39.473479+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12114","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SERAC1 were set to ","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-03-28T14:42:40.895925+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCP2 were set to ","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:42:21.580992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12113","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SERAC1","entity_type":"gene"},{"created":"2022-03-28T14:41:52.165425+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:41:42.158620+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.751","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUFM were changed from  to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:41:10.165501+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEMA3A as ready","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2022-03-28T14:41:10.155331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sema3a has been classified as Green List (High Evidence).","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2022-03-28T14:40:45.613371+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEMA3A were changed from  to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2022-03-28T14:39:44.049605+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEMA3A were set to ","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2022-03-28T14:38:15.249646+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEMA3A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SEMA3A","entity_type":"gene"},{"created":"2022-03-28T14:37:14.079115+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:36:25.494168+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCP2 as ready","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:36:25.482938+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Red List (Low Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:36:20.292213+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCP2 were set to ","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:35:58.996675+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCP2 as Red List (low evidence)","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:35:58.983852+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Red List (Low Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:35:44.319983+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:35:40.832742+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.750","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUFM were set to ","entity_name":"TUFM","entity_type":"gene"},{"created":"2022-03-28T14:35:28.163078+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCP2 as Amber List (moderate evidence)","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:35:28.149374+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:32:55.660130+11:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:32:08.821201+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1521","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCARB2 as ready","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:32:08.809335+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1521","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scarb2 has been classified as Green List (High Evidence).","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:31:52.600235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCP2 as ready","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:31:52.590484+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:31:40.572306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12109","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCP2 were set to 16685654","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:31:16.371775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12108","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCP2 as Amber List (moderate evidence)","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:31:16.360364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scp2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:30:57.846001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12107","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:28:53.436941+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12107","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:28:17.295922+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1521","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCARB2 were changed from Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900","entity_name":"SCARB2","entity_type":"gene"},{"created":"2022-03-28T14:28:03.143887+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCP2 were changed from  to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:27:55.792488+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12105","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:27:29.688478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12105","user_name":"Ain Roesley","item_type":"entity","text":"Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424","entity_name":"CACNA2D2","entity_type":"gene"},{"created":"2022-03-28T14:27:14.877306+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCP2 were set to ","entity_name":"SCP2","entity_type":"gene"},{"created":"2022-03-28T14:27:11.488277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.12104","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: CACNA2D2 were changed from  to Cerebellar atrophy with seizures and variable developmental delay MIM#618501","entity_name":"CACNA2D2","entity_type":"gene"}]}