{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=921","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=919","results":[{"created":"2022-03-23T13:13:55.297805+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NIPAL4","entity_type":"gene"},{"created":"2022-03-23T13:12:03.787736+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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":"NHS","entity_type":"gene"},{"created":"2022-03-23T13:12:00.937417+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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":"NHS","entity_type":"gene"},{"created":"2022-03-23T13:04:07.597710+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None","entity_name":"NFKBIL1","entity_type":"gene"},{"created":"2022-03-23T13:00:54.619267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-03-23T13:00:20.057638+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.417","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-03-23T12:59:01.554244+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NFIA","entity_type":"gene"},{"created":"2022-03-23T12:24:12.522262+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2022-03-23T12:24:01.481398+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.417","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"NEXN","entity_type":"gene"},{"created":"2022-03-23T12:23:10.347204+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.11","user_name":"Krithika Murali","item_type":"entity","text":"gene: NEXN was added\ngene: NEXN was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature","entity_name":"NEXN","entity_type":"gene"},{"created":"2022-03-23T12:22:55.416692+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.228","user_name":"Krithika Murali","item_type":"entity","text":"gene: NEXN was added\ngene: NEXN was added to Hydrops fetalis. Sources: Literature\nMode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: NEXN were set to 33947203; 33949776; 35166435\nPhenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122\nReview for gene: NEXN was set to GREEN\nAdded comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. Fetal Hydrops reported in two of these families.\r\n\r\nPMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.\r\n\r\n\r\nPMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis. \r\n\r\nPMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history. \nSources: Literature","entity_name":"NEXN","entity_type":"gene"},{"created":"2022-03-23T12:05:07.198200+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.330","user_name":"Alison Yeung","item_type":"entity","text":"Marked gene: SUFU as ready","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T12:05:07.184576+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.330","user_name":"Alison Yeung","item_type":"entity","text":"Gene: sufu has been classified as Green List (High Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T12:04:56.033969+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.330","user_name":"Alison Yeung","item_type":"entity","text":"Classified gene: SUFU as Green List (high evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T12:04:56.029721+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.330","user_name":"Alison Yeung","item_type":"entity","text":"Added comment: Comment on list classification: Associated with paediatric-onset ataxia with oculomotor apraxia","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T12:04:56.002960+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.330","user_name":"Alison Yeung","item_type":"entity","text":"Gene: sufu has been classified as Green List (High Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T12:04:10.166505+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.329","user_name":"Alison Yeung","item_type":"entity","text":"gene: SUFU was added\ngene: SUFU was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to 33024317\nPhenotypes for gene: SUFU were set to congenital ocular motor apraxia (forme fruste of Joubert syndrome)\nReview for gene: SUFU was set to GREEN\ngene: SUFU was marked as current diagnostic\nAdded comment: Clinical features include congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI shows consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.\r\n\r\nSUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap. \nSources: Literature","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-23T09:36:42.043635+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEK2 as ready","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:36:42.033617+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nek2 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:36:32.334609+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11792","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEK2 were changed from  to Retinitis pigmentosa 67, MIM#615565","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:36:06.553382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11791","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEK2 were set to ","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:34:51.200491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11790","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:34:29.460956+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11789","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEK2 as Amber List (moderate evidence)","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:34:29.446953+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11789","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nek2 has been classified as Amber List (Moderate Evidence).","entity_name":"NEK2","entity_type":"gene"},{"created":"2022-03-23T09:33:18.311886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, or episodic regression with cavitating leukoencephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:32:42.905612+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NDUFV2: Changed publications: 12754703, 26008862, 29554876, 33811136","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:30:50.724319+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:30:50.715080+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Green List (High Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:30:47.961599+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFV2 were changed from  to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:30:18.307395+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to ","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:29:25.138143+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.447","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:28:47.608253+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:28:47.597846+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:28:44.687060+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFV2 were changed from  to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:28:14.103701+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to ","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:27:42.449084+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:27:10.276245+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFV2 as Amber List (moderate evidence)","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:27:10.266663+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:26:30.836960+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFV2 as ready","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:26:30.822638+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:26:26.734481+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NDUFV2 as Amber List (moderate evidence)","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:26:26.724161+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1500","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufv2 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:25:26.965467+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.747","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862","entity_name":"NDUFV2","entity_type":"gene"},{"created":"2022-03-23T09:23:22.116876+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYCP3 as ready","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:23:22.104418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp3 has been classified as Amber List (Moderate Evidence).","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:23:09.978647+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11788","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYCP3 were changed from  to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:22:48.886050+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11787","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYCP3 were set to ","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:22:27.632160+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11786","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:22:08.470296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11785","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCP3 as Amber List (moderate evidence)","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:22:08.458491+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sycp3 has been classified as Amber List (Moderate Evidence).","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:21:50.550620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11784","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14643120, 19110213, 33170803; Phenotypes: Spermatogenic failure 4, MIM# 270960, Pregnancy loss, recurrent, 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYCP3","entity_type":"gene"},{"created":"2022-03-23T09:15:36.252777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNE4 as ready","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:15:36.241154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syne4 has been classified as Green List (High Evidence).","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:15:28.039904+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNE4 were changed from  to Deafness, autosomal recessive 76, MIM# 615540","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:15:05.344418+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNE4 were set to ","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:14:41.815971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:14:22.325085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11781","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNE4","entity_type":"gene"},{"created":"2022-03-23T09:12:54.303362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11781","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNGAP1 were changed from Mental retardation, autosomal dominant 5, MIM# 612621 to Intellectual disability, autosomal dominant 5 (MIM # 612621)","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:12:03.830740+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11780","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNGAP1 as ready","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:12:03.814586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11780","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syngap1 has been classified as Green List (High Evidence).","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:11:55.608992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11780","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNGAP1 were changed from  to Mental retardation, autosomal dominant 5, MIM# 612621","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:11:37.105214+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11779","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNGAP1 were set to ","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:11:17.176918+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11778","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:10:58.311654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Unsteady gait and ataxia mentioned in this cohort, but appears to be a rare feature. Presentation is typically with ID/seizures/hypotonia.; to: Well established gene-disease association.","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:10:39.281377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYNGAP1: Changed publications: 26989088, 23161826, 21237447, 19196676","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T09:09:44.241270+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SYNGAP1: Changed rating: GREEN","entity_name":"SYNGAP1","entity_type":"gene"},{"created":"2022-03-23T08:31:48.501637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNJ1 as ready","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:31:48.492014+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: synj1 has been classified as Green List (High Evidence).","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:31:33.111618+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNJ1 as ready","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:31:33.099101+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: synj1 has been classified as Green List (High Evidence).","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:31:10.203774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4580","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNJ1 were changed from  to Developmental and epileptic encephalopathy 53, MIM# 617389","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:30:33.209536+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4579","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNJ1 were set to ","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:28:29.722673+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4578","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:27:57.431708+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:27:49.970744+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1499","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNJ1 were changed from  to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:26:53.178617+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SZT2 as ready","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:26:53.167743+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: szt2 has been classified as Green List (High Evidence).","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:26:51.590567+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1498","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNJ1 were set to ","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:26:14.561456+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1497","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:25:36.870087+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:25:22.835734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11777","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNJ1 were changed from  to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:25:03.372558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11776","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNJ1 were set to ","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:24:42.356963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11775","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:24:21.129552+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYNJ1 as ready","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:24:21.119776+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: synj1 has been classified as Green List (High Evidence).","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:24:18.895082+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYNJ1 were changed from  to Parkinson disease 20, early-onset, MIM# 615530","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:23:43.757084+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYNJ1 were set to ","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:23:07.400055+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:22:31.500920+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23804563, 23804577, 27496670, 33841314; Phenotypes: Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:21:47.666741+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11774","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2022-03-23T08:20:34.193590+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11774","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: ADCY10 as ready","entity_name":"ADCY10","entity_type":"gene"},{"created":"2022-03-23T08:20:34.184451+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11774","user_name":"Elena Savva","item_type":"entity","text":"Gene: adcy10 has been classified as Amber List (Moderate Evidence).","entity_name":"ADCY10","entity_type":"gene"},{"created":"2022-03-23T08:17:13.767710+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4577","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SZT2 were set to ","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:16:41.399818+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4576","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:16:07.135688+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4575","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:15:58.193614+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SZT2 as ready","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:15:58.183401+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: szt2 has been classified as Green List (High Evidence).","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:15:43.084823+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SZT2 were changed from  to Developmental and epileptic encephalopathy 18, OMIM #615476","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:15:03.204294+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SZT2 were changed from Developmental and epileptic encephalopathy 18, OMIM #615476 to Developmental and epileptic encephalopathy 18, OMIM #615476","entity_name":"SZT2","entity_type":"gene"},{"created":"2022-03-23T08:15:03.171962+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SZT2 were set to 23932106; 30560016; 30359774; 28556953; 32402703","entity_name":"SZT2","entity_type":"gene"}]}