{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2053","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2051","results":[{"created":"2019-12-10T21:21:29.520740+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1167","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31059822, 24119684; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SFXN4","entity_type":"gene"},{"created":"2019-12-10T21:15:56.392558+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1167","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SF3B4 as ready","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:56.383893+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b4 has been classified as Red List (Low Evidence).","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:44.623142+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1167","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SF3B4 were changed from  to Acrofacial dysostosis 1, Nager type, MIM#154400","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:29.533213+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1166","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SF3B4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:21.224562+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SF3B4 as Red List (low evidence)","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:21.216968+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b4 has been classified as Red List (Low Evidence).","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T21:15:04.255705+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1164","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SF3B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrofacial dysostosis 1, Nager type, MIM#154400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SF3B4","entity_type":"gene"},{"created":"2019-12-10T19:01:24.972434+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEPSECS as ready","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T19:01:24.964703+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sepsecs has been classified as Green List (High Evidence).","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T19:01:19.622946+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1164","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEPSECS were changed from  to Pontocerebellar hypoplasia type 2D, MIM#613811","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T19:01:06.841922+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1163","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEPSECS were set to ","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T19:00:54.181172+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1162","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T19:00:37.750550+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12920088, 25044680; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM#613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2019-12-10T18:57:29.227958+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEMA3E: Rating: AMBER; Mode of pathogenicity: None; Publications: 15235037, 31691538, 31464029; Phenotypes: CHARGE syndrome, MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SEMA3E","entity_type":"gene"},{"created":"2019-12-10T18:50:23.300463+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENON as ready","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:50:23.292944+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenon has been classified as Red List (Low Evidence).","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:50:08.355346+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENON were changed from  to Muscular dystrophy, rigid spine, 1, MIM# 602771; Myopathy, congenital, with fiber-type disproportion, MIM# 255310","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:49:56.159434+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1160","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:49:49.589849+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1159","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENON as Red List (low evidence)","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:49:49.581310+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1159","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenon has been classified as Red List (Low Evidence).","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:49:36.929745+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1158","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SELENON: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, rigid spine, 1, MIM# 602771, Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SELENON","entity_type":"gene"},{"created":"2019-12-10T18:45:45.905945+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENOI as ready","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:45:45.898863+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Red List (Low Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:45:30.230602+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1158","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SELENOI was added\ngene: SELENOI was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SELENOI were set to 28052917\nPhenotypes for gene: SELENOI were set to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly\nReview for gene: SELENOI was set to RED\nAdded comment: Single family only, four sibs, supportive biochemical evidence. Borderline amber/red gene, only mild ID described, seems to be more of a progressive neurometabolic condition based on limited evidence. \nSources: Expert list","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:39:11.745170+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENOI as ready","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:39:11.737900+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:39:03.303814+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENOI were changed from  to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:38:17.458189+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SELENOI were set to ","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:38:09.810520+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:38:01.883821+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENOI as Amber List (moderate evidence)","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:38:01.875889+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T18:37:41.517737+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals, microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:29:12.680614+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SELENOI as ready","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:29:12.672951+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:29:08.477029+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SELENOI were set to ","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:28:46.461751+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SELENOI were changed from  to developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:28:26.941555+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SELENOI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:28:05.199918+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SELENOI as Amber List (moderate evidence)","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:28:05.190994+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: selenoi has been classified as Amber List (Moderate Evidence).","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:27:38.201350+11:00","panel_name":"Microcephaly_VCGS","panel_id":138,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SELENOI: Rating: AMBER; Mode of pathogenicity: None; Publications: 28052917; Phenotypes: developmental delay, spasticity, periventricular white mater abnormalities, peripheral neuropathy, seizures, bifid uvula in some affected individuals; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SELENOI","entity_type":"gene"},{"created":"2019-12-10T17:18:17.867849+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1157","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TACO1 as Amber List (moderate evidence)","entity_name":"TACO1","entity_type":"gene"},{"created":"2019-12-10T17:18:17.860453+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1157","user_name":"chirag patel","item_type":"entity","text":"Gene: taco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TACO1","entity_type":"gene"},{"created":"2019-12-10T17:18:05.235043+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1156","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TACO1.\nSource Expert list was added to TACO1.\nMode of inheritance for gene TACO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACO1 were changed from  to Mitochondrial complex IV deficiency; OMIM #220110\nPublications for gene TACO1 were changed from PubMed: 19503089; 20727754; 25044680 to PubMed: 19503089; 20727754; 25044680","entity_name":"TACO1","entity_type":"gene"},{"created":"2019-12-10T17:17:43.088479+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1155","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TACO1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 19503089, 20727754, 25044680; Phenotypes: Mitochondrial complex IV deficiency, OMIM #220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TACO1","entity_type":"gene"},{"created":"2019-12-10T17:11:00.818239+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1155","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TAF8 as Red List (low evidence)","entity_name":"TAF8","entity_type":"gene"},{"created":"2019-12-10T17:11:00.809450+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1155","user_name":"chirag patel","item_type":"entity","text":"Gene: taf8 has been classified as Red List (Low Evidence).","entity_name":"TAF8","entity_type":"gene"},{"created":"2019-12-10T17:10:49.286041+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1154","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TAF8.\nSource Expert list was added to TAF8.\nMode of inheritance for gene TAF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene TAF8 were changed from PMID: 29648665 to PMID: 29648665","entity_name":"TAF8","entity_type":"gene"},{"created":"2019-12-10T17:10:22.684930+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1153","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TAF8: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 29648665; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TAF8","entity_type":"gene"},{"created":"2019-12-10T17:07:45.563225+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1153","user_name":"chirag patel","item_type":"entity","text":"Deleted their comment","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2019-12-10T17:07:40.281767+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1153","user_name":"chirag patel","item_type":"entity","text":"edited their review of gene: TBC1D20: Added comment: Liegel et al. (2013) analyzed the candidate gene TBC1D20 and identified homozygous mutations in 7 patients diagnosed with Warburg Micro syndrome from 5 families of different ethnic origins. Evaluation of human fibroblasts deficient in TBC1D20 function identified aberrant lipid droplet formation.; Changed rating: GREEN","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2019-12-10T17:07:08.464429+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1153","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TBC1D20.\nSource Expert list was added to TBC1D20.\nMode of inheritance for gene TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D20 were changed from  to Warburg micro syndrome 4; OMIM #615663\nPublications for gene TBC1D20 were changed from PubMed: 24239381 to PubMed: 24239381","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2019-12-10T17:06:47.533492+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1152","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24239381; Phenotypes: Warburg micro syndrome 4, OMIM #615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2019-12-10T17:01:55.402930+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1152","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TCTN3 as Amber List (moderate evidence)","entity_name":"TCTN3","entity_type":"gene"},{"created":"2019-12-10T17:01:55.395664+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1152","user_name":"chirag patel","item_type":"entity","text":"Gene: tctn3 has been classified as Amber List (Moderate Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2019-12-10T17:01:45.643264+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1151","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TCTN3.\nSource Expert list was added to TCTN3.\nMode of inheritance for gene TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were changed from  to Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860\nPublications for gene TCTN3 were changed from PubMed: 22883145; 25118024; 26092869 to PubMed: 22883145; 25118024; 26092869","entity_name":"TCTN3","entity_type":"gene"},{"created":"2019-12-10T17:01:26.492688+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1150","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22883145, 25118024, 26092869; Phenotypes: Joubert syndrome 18, OMIM #614815, Orofaciodigital syndrome IV, OMIM #258860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN3","entity_type":"gene"},{"created":"2019-12-10T16:58:14.145146+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1150","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SDHD from the panel","entity_name":null,"entity_type":null},{"created":"2019-12-10T16:53:20.422415+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1149","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TDGF1 as Red List (low evidence)","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:53:20.415050+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1149","user_name":"chirag patel","item_type":"entity","text":"Gene: tdgf1 has been classified as Red List (Low Evidence).","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:53:09.717123+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1148","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TDGF1.\nSource Expert list was added to TDGF1.\nPublications for gene TDGF1 were changed from PMID: 12073012 to PMID: 12073012","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:52:53.482625+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"chirag patel","item_type":"entity","text":"edited their review of gene: TDGF1: Added comment: No OMIM number listed.\r\n\r\n1 patient with TDGF1 mutation with midline anomalies of the forebrain. The mutant protein is inactive in a zebrafish rescue assay, indicating a role for TDGF1 in human midline and forebrain development.; Changed publications: PMID: 12073012; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:48:53.291759+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"chirag patel","item_type":"entity","text":"Deleted their comment","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:48:07.389030+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7, MIM#613863, HSAN2D, autosomal recessive, MIM#243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN9A","entity_type":"gene"},{"created":"2019-12-10T16:45:27.192456+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TDGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TDGF1","entity_type":"gene"},{"created":"2019-12-10T16:45:12.487806+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN1B as ready","entity_name":"SCN1B","entity_type":"gene"},{"created":"2019-12-10T16:45:12.477915+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn1b has been classified as Green List (High Evidence).","entity_name":"SCN1B","entity_type":"gene"},{"created":"2019-12-10T16:44:53.923037+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN1B were changed from  to Epileptic encephalopathy, early infantile, 52, MIM#617350","entity_name":"SCN1B","entity_type":"gene"},{"created":"2019-12-10T16:44:40.267341+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCN1B","entity_type":"gene"},{"created":"2019-12-10T16:44:27.391243+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 52, MIM#617350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCN1B","entity_type":"gene"},{"created":"2019-12-10T16:43:52.469870+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1145","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TDP2.\nSource Expert list was added to TDP2.\nMode of inheritance for gene TDP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TDP2 were changed from  to Spinocerebellar ataxia, autosomal recessive 23; OMIM #616949\nPublications for gene TDP2 were changed from PMID: 31410782; 30109272; 24658003 to PMID: 31410782; 30109272; 24658003","entity_name":"TDP2","entity_type":"gene"},{"created":"2019-12-10T16:43:33.891724+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1144","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TDP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31410782, 30109272, 24658003; Phenotypes: Spinocerebellar ataxia, autosomal recessive 23, OMIM #616949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TDP2","entity_type":"gene"},{"created":"2019-12-10T16:35:23.170752+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1144","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TERT.\nSource Expert list was added to TERT.\nMode of inheritance for gene TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were changed from  to Dyskeratosis congenita, autosomal dominant 2, OMIM #613989; Dyskeratosis congenita, autosomal recessive 4, OMIM #613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742","entity_name":"TERT","entity_type":"gene"},{"created":"2019-12-10T16:35:04.652296+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1143","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal dominant 2, OMIM #613989, Dyskeratosis congenita, autosomal recessive 4, OMIM #613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TERT","entity_type":"gene"},{"created":"2019-12-10T16:29:02.170861+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1143","user_name":"chirag patel","item_type":"entity","text":"Deleted their comment","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:28:59.120217+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1143","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TFAP2A as Red List (low evidence)","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:28:59.113292+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1143","user_name":"chirag patel","item_type":"entity","text":"Gene: tfap2a has been classified as Red List (Low Evidence).","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:28:47.098444+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1142","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TFAP2A.\nSource Expert list was added to TFAP2A.\nMode of inheritance for gene TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2A were changed from  to Branchiooculofacial syndrome; OMIM #113620","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:28:23.489404+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1141","user_name":"chirag patel","item_type":"entity","text":"commented on gene: TFAP2A: no ID as part of phenotype.","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:28:23.149433+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1141","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TFAP2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiooculofacial syndrome, OMIM #113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2A","entity_type":"gene"},{"created":"2019-12-10T16:27:11.393549+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1141","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TFAP2B as Red List (low evidence)","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2019-12-10T16:27:11.386471+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1141","user_name":"chirag patel","item_type":"entity","text":"Gene: tfap2b has been classified as Red List (Low Evidence).","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2019-12-10T16:27:01.367532+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1140","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TFAP2B.\nSource Expert list was added to TFAP2B.\nMode of inheritance for gene TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TFAP2B were changed from  to Char syndrome, OMIM #169100; Patent ductus arteriosus 2, OMIM #617035","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2019-12-10T16:26:42.897687+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1139","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, OMIM #169100, Patent ductus arteriosus 2, OMIM #617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TFAP2B","entity_type":"gene"},{"created":"2019-12-10T16:25:29.169107+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1139","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TFG as Red List (low evidence)","entity_name":"TFG","entity_type":"gene"},{"created":"2019-12-10T16:25:29.161661+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1139","user_name":"chirag patel","item_type":"entity","text":"Gene: tfg has been classified as Red List (Low Evidence).","entity_name":"TFG","entity_type":"gene"},{"created":"2019-12-10T16:25:17.914974+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1138","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TFG.\nSource Expert list was added to TFG.\nMode of inheritance for gene TFG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TFG were changed from  to ?Spastic paraplegia 57, autosomal recessive, OMIM #615658; Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484","entity_name":"TFG","entity_type":"gene"},{"created":"2019-12-10T16:25:03.855782+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1137","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TFG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive, OMIM #615658, Hereditary motor and sensory neuropathy, Okinawa type, OMIM #604484; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TFG","entity_type":"gene"},{"created":"2019-12-10T16:23:29.488047+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1137","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TG as Red List (low evidence)","entity_name":"TG","entity_type":"gene"},{"created":"2019-12-10T16:23:29.481157+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1137","user_name":"chirag patel","item_type":"entity","text":"Gene: tg has been classified as Red List (Low Evidence).","entity_name":"TG","entity_type":"gene"},{"created":"2019-12-10T16:23:19.273389+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1136","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TG.\nSource Expert list was added to TG.\nMode of inheritance for gene TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TG were changed from  to Thyroid dyshormonogenesis 3; OMIM #274700","entity_name":"TG","entity_type":"gene"},{"created":"2019-12-10T16:23:03.136974+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1135","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 3, OMIM #274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TG","entity_type":"gene"},{"created":"2019-12-10T16:21:39.230913+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1135","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TGFBR1 as Red List (low evidence)","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2019-12-10T16:21:39.220964+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1135","user_name":"chirag patel","item_type":"entity","text":"Gene: tgfbr1 has been classified as Red List (Low Evidence).","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2019-12-10T16:21:16.544625+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1134","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TGFBR1.\nSource Expert list was added to TGFBR1.\nMode of inheritance for gene TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR1 were changed from  to Loeys-Dietz syndrome 1; OMIM #609192","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2019-12-10T16:20:58.973936+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1133","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TGFBR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, OMIM #609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGFBR1","entity_type":"gene"},{"created":"2019-12-10T16:20:13.481877+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1133","user_name":"chirag patel","item_type":"entity","text":"Classified gene: TGFBR2 as Red List (low evidence)","entity_name":"TGFBR2","entity_type":"gene"},{"created":"2019-12-10T16:20:13.474196+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1133","user_name":"chirag patel","item_type":"entity","text":"Gene: tgfbr2 has been classified as Red List (Low Evidence).","entity_name":"TGFBR2","entity_type":"gene"},{"created":"2019-12-10T16:20:04.076697+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1132","user_name":"chirag patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TGFBR2.\nSource Expert list was added to TGFBR2.\nMode of inheritance for gene TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were changed from  to Loeys-Dietz syndrome 2; OMIM #610168","entity_name":"TGFBR2","entity_type":"gene"},{"created":"2019-12-10T16:19:47.785593+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1131","user_name":"chirag patel","item_type":"entity","text":"reviewed gene: TGFBR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 2, OMIM #610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TGFBR2","entity_type":"gene"}]}