{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1987","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1985","results":[{"created":"2020-01-14T20:32:33.075539+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc11 has been classified as Green List (High Evidence).","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2020-01-14T20:31:50.490629+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRMT1 as ready","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:31:50.478920+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trmt1 has been classified as Green List (High Evidence).","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:31:38.907152+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRMT1 as Green List (high evidence)","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:31:38.895660+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trmt1 has been classified as Green List (High Evidence).","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:31:15.651315+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.786","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TRMT1 was added\ngene: TRMT1 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: TRMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRMT1 were set to 30289604; 26308914; 21937992\nPhenotypes for gene: TRMT1 were set to Mental retardation, autosomal recessive 68; OMIM #618302\nReview for gene: TRMT1 was set to GREEN\nAdded comment: 4 families reported:\r\n-1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development.\r\n-1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development\r\n-2 unrelated Pakistani families with 4 patients with impaired intellectual development.\r\nAll with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed. \nSources: Expert list","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:27:10.714121+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRMT1 as ready","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T20:27:10.702142+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trmt1 has been classified as Green List (High Evidence).","entity_name":"TRMT1","entity_type":"gene"},{"created":"2020-01-14T19:48:55.171296+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRNT1 as ready","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-01-14T19:48:55.159629+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trnt1 has been classified as Green List (High Evidence).","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-01-14T19:48:14.259933+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRRAP as ready","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-01-14T19:48:14.248648+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trrap has been classified as Green List (High Evidence).","entity_name":"TRRAP","entity_type":"gene"},{"created":"2020-01-14T19:47:06.792136+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UFM1 as ready","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-14T19:47:06.780543+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ufm1 has been classified as Green List (High Evidence).","entity_name":"UFM1","entity_type":"gene"},{"created":"2020-01-14T19:46:27.249100+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VARS2 as ready","entity_name":"VARS2","entity_type":"gene"},{"created":"2020-01-14T19:46:27.237544+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vars2 has been classified as Green List (High Evidence).","entity_name":"VARS2","entity_type":"gene"},{"created":"2020-01-14T19:45:39.538086+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VIPAS39 as ready","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2020-01-14T19:45:39.526200+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vipas39 has been classified as Green List (High Evidence).","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2020-01-14T19:44:19.177392+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS33B as ready","entity_name":"VPS33B","entity_type":"gene"},{"created":"2020-01-14T19:44:19.157710+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33b has been classified as Green List (High Evidence).","entity_name":"VPS33B","entity_type":"gene"},{"created":"2020-01-14T19:43:16.226153+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS37A as ready","entity_name":"VPS37A","entity_type":"gene"},{"created":"2020-01-14T19:43:16.214517+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps37a has been classified as Green List (High Evidence).","entity_name":"VPS37A","entity_type":"gene"},{"created":"2020-01-14T19:42:29.159723+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR37 as ready","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-01-14T19:42:29.148358+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr37 has been classified as Green List (High Evidence).","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-01-14T19:41:55.912644+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT1 as ready","entity_name":"WNT1","entity_type":"gene"},{"created":"2020-01-14T19:41:55.901149+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt1 has been classified as Green List (High Evidence).","entity_name":"WNT1","entity_type":"gene"},{"created":"2020-01-14T19:41:21.222294+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT5A as ready","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-01-14T19:41:21.210885+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt5a has been classified as Green List (High Evidence).","entity_name":"WNT5A","entity_type":"gene"},{"created":"2020-01-14T19:40:42.458015+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPA as ready","entity_name":"XPA","entity_type":"gene"},{"created":"2020-01-14T19:40:42.445992+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpa has been classified as Green List (High Evidence).","entity_name":"XPA","entity_type":"gene"},{"created":"2020-01-14T19:19:07.544476+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XYLT1 as ready","entity_name":"XYLT1","entity_type":"gene"},{"created":"2020-01-14T19:19:07.533164+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xylt1 has been classified as Green List (High Evidence).","entity_name":"XYLT1","entity_type":"gene"},{"created":"2020-01-14T19:18:38.046844+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZNF335 as ready","entity_name":"ZNF335","entity_type":"gene"},{"created":"2020-01-14T19:18:38.030919+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: znf335 has been classified as Green List (High Evidence).","entity_name":"ZNF335","entity_type":"gene"},{"created":"2020-01-14T19:18:27.918043+11:00","panel_name":"Autism_VCGS","panel_id":51,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ZSWIM6 was changed from Other to None","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:10:45.192556+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZSWIM6 as ready","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:10:45.180974+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zswim6 has been classified as Green List (High Evidence).","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:10:38.641052+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1545","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: ZSWIM6 was changed from  to None","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:10:05.128171+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1544","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZSWIM6 were set to ","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:09:32.826661+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZSWIM6 were changed from  to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:07:14.172808+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1542","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZSWIM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZSWIM6","entity_type":"gene"},{"created":"2020-01-14T19:05:53.590774+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAGT1 as ready","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-01-14T19:05:53.579049+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: magt1 has been classified as Amber List (Moderate Evidence).","entity_name":"MAGT1","entity_type":"gene"},{"created":"2020-01-14T19:02:30.648954+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPL3 as ready","entity_name":"MRPL3","entity_type":"gene"},{"created":"2020-01-14T19:02:30.636528+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrpl3 has been classified as Amber List (Moderate Evidence).","entity_name":"MRPL3","entity_type":"gene"},{"created":"2020-01-14T18:49:28.541591+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFB9 as ready","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2020-01-14T18:49:28.525643+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufb9 has been classified as Amber List (Moderate Evidence).","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2020-01-14T18:49:18.960904+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1541","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDUFB9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFB9","entity_type":"gene"},{"created":"2020-01-14T18:47:44.785186+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A3 as ready","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:47:44.779839+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.\r\n\r\n1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:47:44.738714+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:47:14.623939+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A3 were changed from  to Arthrogryposis, mental retardation, and seizures; OMIM #615553","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:46:53.491022+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:46:09.260567+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A3 as ready","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:46:09.254547+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: 1 family with 2 sibs, with segregation but no functional studies.\r\n\r\n1 family with 8 affected people. The mutations segregated with the disorder in the family. Patient cells showed no normal transcript, indicating that they had no functional SLC35A3 protein. Golgi vesicles derived from patient fibroblasts showed significantly reduced transport of UDP-GlCNAc compared to controls.","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:46:09.210690+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:45:51.851352+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A3 were set to ","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:45:19.968444+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.782","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35A3 as Amber List (moderate evidence)","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:45:19.956595+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.782","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:44:54.711420+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:44:30.408006+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35A3 were set to ","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:44:06.953850+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35A3 were changed from  to Arthrogryposis, mental retardation, and seizures; OMIM #615553","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:43:43.245874+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35A3 as Amber List (moderate evidence)","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:43:43.234240+11:00","panel_name":"Congenital Disorders of Glycosylation_VCGS","panel_id":68,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:42:39.530016+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35A3 as ready","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:42:39.518096+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35a3 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35A3","entity_type":"gene"},{"created":"2020-01-14T18:41:21.161932+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A7 as ready","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:41:21.149682+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:41:06.766794+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC9A7 as Amber List (moderate evidence)","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:41:06.754291+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:40:44.782936+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.780","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC9A7 was added\ngene: SLC9A7 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: SLC9A7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SLC9A7 were set to 30335141\nPhenotypes for gene: SLC9A7 were set to Intellectual developmental disorder, X-linked 108; OMIM #301024\nReview for gene: SLC9A7 was set to AMBER\nAdded comment: 6 males from 2 unrelated families with hemizygous missense mutation in the SLC9A7 gene. The mutation segregated with the disorder in the family. In vitro functional expression studies in CHO cells (AP-1 cells) showed that the mutation caused decreased levels of protein expression and reduced oligosaccharide maturation/glycosylation compared to wildtype, indicating impaired posttranslational processing. Subcellular localization studies indicated that protein trafficking was unaffected by the mutation. However, examination of the trans-Golgi compartment suggested a gain-of-function effect and a perturbation of glycosylation of secretory cargo. Serum transferrin studies in 1 patient suggested a glycosylation defect. \nSources: Literature","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:39:30.101514+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A7 as ready","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:39:30.089423+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a7 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC9A7","entity_type":"gene"},{"created":"2020-01-14T18:38:00.000108+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNRPN as ready","entity_name":"SNRPN","entity_type":"gene"},{"created":"2020-01-14T18:37:59.988225+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpn has been classified as Amber List (Moderate Evidence).","entity_name":"SNRPN","entity_type":"gene"},{"created":"2020-01-14T18:37:44.486336+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: SNRPN.","entity_name":"SNRPN","entity_type":"gene"},{"created":"2020-01-14T18:36:08.322792+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TACO1 as ready","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-01-14T18:36:08.311056+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taco1 has been classified as Amber List (Moderate Evidence).","entity_name":"TACO1","entity_type":"gene"},{"created":"2020-01-14T18:35:19.836776+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN3 as ready","entity_name":"TCTN3","entity_type":"gene"},{"created":"2020-01-14T18:35:19.825034+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn3 has been classified as Green List (High Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2020-01-14T18:34:46.397102+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TCTN3 as Green List (high evidence)","entity_name":"TCTN3","entity_type":"gene"},{"created":"2020-01-14T18:34:46.385494+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn3 has been classified as Green List (High Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2020-01-14T18:28:42.396281+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA1161 as ready","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:28:42.384868+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa1161 has been classified as Green List (High Evidence).","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:26:46.349664+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA1161 as Green List (high evidence)","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:26:46.338193+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa1161 has been classified as Green List (High Evidence).","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:26:14.361512+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIAA1161 was added\ngene: KIAA1161 was added to Mendeliome_VCGS. Sources: Literature\nMode of inheritance for gene: KIAA1161 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIAA1161 were set to 30656188; 30649222; 30460687; 29910000\nPhenotypes for gene: KIAA1161 were set to Basal ganglia calcification, idiopathic, 7, autosomal recessive; OMIM #618317\nReview for gene: KIAA1161 was set to GREEN\nAdded comment: Total 9 families, but no functional evidence:\r\n\r\n12 patients from 6 unrelated Chinese families reported by Yao et al. (2018) and homozygous or compound heterozygous mutations in the MYORG gene. Functional studies of the variants and studies of patient cells were not performed, but the presence of nonsense mutations suggested a loss of function. \r\n\r\n1 Chinese woman identified with homozygous nonsense mutation in the MYORG gene, segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. \r\n\r\n2 unrelated Middle Eastern families with homozygous mutations in the MYORG gene, which segregated with the disorder in the families. Functional studies of the variants were not performed. \r\n\r\n4 sibs from one Turkish family with homozygous missense mutation in the MYORG gene, which segregated with the disorder in the family. Functional studies of the variant and studies of patient cells were not performed. \nSources: Literature","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:21:41.552665+11:00","panel_name":"Brain calcification_VCGS","panel_id":58,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA1161 as ready","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:21:41.541050+11:00","panel_name":"Brain calcification_VCGS","panel_id":58,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa1161 has been classified as Green List (High Evidence).","entity_name":"KIAA1161","entity_type":"gene"},{"created":"2020-01-14T18:09:54.192007+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TEMN3-AS1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-01-14T18:05:05.105636+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEMN3-AS1 as ready","entity_name":"TEMN3-AS1","entity_type":"gene"},{"created":"2020-01-14T18:05:05.093341+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: temn3-as1 has been classified as Green List (High Evidence).","entity_name":"TEMN3-AS1","entity_type":"gene"},{"created":"2020-01-14T18:04:58.518912+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TEMN3-AS1 as Green List (high evidence)","entity_name":"TEMN3-AS1","entity_type":"gene"},{"created":"2020-01-14T18:04:58.507695+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: temn3-as1 has been classified as Green List (High Evidence).","entity_name":"TEMN3-AS1","entity_type":"gene"},{"created":"2020-01-14T18:04:26.988960+11:00","panel_name":"Anophthalmia, microphthalmia, coloboma_VCGS","panel_id":42,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TEMN3-AS1 was added\ngene: TEMN3-AS1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list\nMode of inheritance for gene: TEMN3-AS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEMN3-AS1 were set to 27103084; 30513139; 30513139; 22766609\nPhenotypes for gene: TEMN3-AS1 were set to Microphthalmia, isolated, with coloboma 9, OMIM #615145; Microphthalmia, syndromic 15, OMIM #615145\nReview for gene: TEMN3-AS1 was set to GREEN\nAdded comment: Three families with syndromic microphthalmia and one family with non-syndromic microphthalmia reported. \nSources: Expert list","entity_name":"TEMN3-AS1","entity_type":"gene"},{"created":"2020-01-14T17:56:13.324599+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM231 as ready","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-01-14T17:56:13.312395+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem231 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM231","entity_type":"gene"},{"created":"2020-01-14T17:51:46.237809+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFM as ready","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-01-14T17:51:46.226517+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tufm has been classified as Amber List (Moderate Evidence).","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-01-14T17:51:03.299032+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UQCC2 as ready","entity_name":"UQCC2","entity_type":"gene"}]}