{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1717","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1715","results":[{"created":"2020-07-22T20:41:47.051697+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SLC37A4 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:39:55.939085+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from Storage Disorder to Lysosomal Storage Disorder\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:38:49.075517+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3467","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UVSSA as ready","entity_name":"UVSSA","entity_type":"gene"},{"created":"2020-07-22T20:38:49.066086+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: uvssa has been classified as Green List (High Evidence).","entity_name":"UVSSA","entity_type":"gene"},{"created":"2020-07-22T20:38:42.714543+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3467","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UVSSA were changed from  to UV-sensitive syndrome 3 (MIM#614640)","entity_name":"UVSSA","entity_type":"gene"},{"created":"2020-07-22T20:38:17.526587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3466","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UVSSA were set to ","entity_name":"UVSSA","entity_type":"gene"},{"created":"2020-07-22T20:38:00.579674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3465","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UVSSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"UVSSA","entity_type":"gene"},{"created":"2020-07-22T20:37:18.947182+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3464","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEC23A as ready","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:37:18.938414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3464","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:37:12.617397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3464","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC23A were changed from  to Craniolenticulosutural dysplasia (MIM# 607812)","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:36:55.891534+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3463","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC23A were set to ","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:36:38.277203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3462","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEC23A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:36:20.487907+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3461","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SEC23A as Amber List (moderate evidence)","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:36:20.477473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3461","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23a has been classified as Amber List (Moderate Evidence).","entity_name":"SEC23A","entity_type":"gene"},{"created":"2020-07-22T20:35:26.785837+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DACT1 as ready","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-07-22T20:35:26.777590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Red List (Low Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-07-22T20:35:15.855831+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3460","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DACT1 were changed from ?Townes-Brocks syndrome 2 (OMIM #617466) to Townes-Brocks syndrome 2 (OMIM #617466)","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-07-22T20:34:57.987474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3459","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DACT1 as Red List (low evidence)","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-07-22T20:34:57.979702+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3459","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dact1 has been classified as Red List (Low Evidence).","entity_name":"DACT1","entity_type":"gene"},{"created":"2020-07-22T20:31:57.361508+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS33A as ready","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:31:57.351498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33a has been classified as Amber List (Moderate Evidence).","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:31:50.282024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3458","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS33A were changed from  to Mucopolysaccharidosis-plus syndrome (MIM#617303)","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:31:32.776221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3457","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS33A were set to ","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:31:06.192768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3456","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:30:52.370531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS33A as Amber List (moderate evidence)","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:30:52.362353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3455","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33a has been classified as Amber List (Moderate Evidence).","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:30:35.421853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3454","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS33A: Rating: AMBER; Mode of pathogenicity: None; Publications: 28013294, 27547915; Phenotypes: Mucopolysaccharidosis-plus syndrome (MIM#617303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:29:21.822451+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS33A as ready","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:29:21.812267+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33a has been classified as Amber List (Moderate Evidence).","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:29:18.508164+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS33A were changed from  to Mucopolysaccharidosis-plus syndrome (MIM#617303)","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:28:51.530903+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS33A were set to ","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:28:28.142430+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS33A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:28:03.926051+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS33A as Amber List (moderate evidence)","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:28:03.917034+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps33a has been classified as Amber List (Moderate Evidence).","entity_name":"VPS33A","entity_type":"gene"},{"created":"2020-07-22T20:27:07.520708+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTNS as ready","entity_name":"CTNS","entity_type":"gene"},{"created":"2020-07-22T20:27:07.509567+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctns has been classified as Green List (High Evidence).","entity_name":"CTNS","entity_type":"gene"},{"created":"2020-07-22T20:27:01.376128+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTNS as Green List (high evidence)","entity_name":"CTNS","entity_type":"gene"},{"created":"2020-07-22T20:27:01.366235+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctns has been classified as Green List (High Evidence).","entity_name":"CTNS","entity_type":"gene"},{"created":"2020-07-22T20:25:15.408726+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A2 as ready","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:25:15.399398+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a2 has been classified as Green List (High Evidence).","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:25:12.712793+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC2A2 were changed from  to Fanconi-Bickel syndrome (MIM#227810)","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:24:35.776209+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC2A2 were set to ","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:24:09.303103+10:00","panel_name":"Storage Disorder","panel_id":181,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:23:27.175319+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC37A4 as ready","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T20:23:27.166697+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc37a4 has been classified as Green List (High Evidence).","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T20:23:24.288928+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC37A4 were changed from  to Glycogen storage disease Ib (MIM#232220); Glycogen storage disease Ic (MIM#232240)","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T20:04:14.802298+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC37A4 were set to ","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T20:03:45.270477+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T20:03:02.235109+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A2 as ready","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:03:02.218504+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a2 has been classified as Green List (High Evidence).","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:02:54.705927+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC2A2 were changed from  to Fanconi-Bickel syndrome (MIM#227810)","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:02:08.535540+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC2A2 were set to ","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:01:37.523059+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T20:00:34.269469+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF10 as ready","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-22T20:00:34.259755+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf10 has been classified as Green List (High Evidence).","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-22T20:00:23.611144+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF10 as Green List (high evidence)","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-22T20:00:23.603366+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf10 has been classified as Green List (High Evidence).","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-22T19:52:34.253442+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LFNG as ready","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:52:34.245008+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lfng has been classified as Green List (High Evidence).","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:52:20.368653+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LFNG were changed from  to Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:51:53.008862+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LFNG were set to ","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:51:16.104492+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LFNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:50:52.545428+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LFNG as Green List (high evidence)","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T19:50:52.537155+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lfng has been classified as Green List (High Evidence).","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:59:34.748902+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LFNG: Changed rating: GREEN","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:59:29.382666+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported.; to: LFNG encodes a fucose-specific beta-1,3-N-acetylglucosaminyltransferase that modifies Notch receptors and alters Notch signaling activity. Two unrelated individuals reported and two mouse models.","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:59:19.570858+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LFNG: Changed publications: 9690472, 16385447, 30531807, 9690473","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:57:54.847940+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LFNG as Amber List (moderate evidence)","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:57:54.837280+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lfng has been classified as Amber List (Moderate Evidence).","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:57:31.328721+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LFNG: Rating: AMBER; Mode of pathogenicity: None; Publications: 16385447, 30531807; Phenotypes: Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LFNG","entity_type":"gene"},{"created":"2020-07-22T18:51:26.411315+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DHDDS as ready","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:51:26.402425+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhdds has been classified as Red List (Low Evidence).","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:51:23.041741+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DHDDS were changed from  to Congenital disorder of glycosylation, type 1bb, MIM# 613861","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:50:58.144313+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DHDDS were set to ","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:50:33.302834+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DHDDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:50:12.313144+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DHDDS as Red List (low evidence)","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:50:12.304781+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dhdds has been classified as Red List (Low Evidence).","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:49:49.731778+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DHDDS: Changed rating: RED","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:49:43.488528+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DHDDS: Rating: ; Mode of pathogenicity: None; Publications: 27343064; Phenotypes: Congenital disorder of glycosylation, type 1bb, MIM# 613861; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHDDS","entity_type":"gene"},{"created":"2020-07-22T18:32:01.698270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3454","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG2 as ready","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:32:01.683774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3454","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog2 has been classified as Red List (Low Evidence).","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:31:54.987658+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3454","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COG2 were changed from  to Congenital disorder of glycosylation, type IIq (MIM# 617395)","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:31:35.011635+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3453","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COG2 were set to ","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:30:50.802804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3452","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:30:32.106050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3451","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COG2 as Red List (low evidence)","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:30:32.080476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3451","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog2 has been classified as Red List (Low Evidence).","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T18:28:57.441701+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALG14 were changed from Myasthenic syndrome, congenital, 15, without tubular aggregates 616227 to Myasthenic syndrome, congenital, 15, without tubular aggregates 616227; Intellectual disability; Disorder of N-glycosylation","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-07-22T18:28:21.329899+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ALG14: Changed phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates 616227, Intellectual disability, Disorder of N-glycosylation","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-07-22T18:27:25.042441+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; to: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype. ALG14 is part of the UDP-GlcNAc transferase, which catalyzes a key step in endoplasmic reticulum N-linked glycosylation","entity_name":"ALG14","entity_type":"gene"},{"created":"2020-07-22T17:15:26.769143+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.14","user_name":"Natalie Tan","item_type":"entity","text":"gene: FGF10 was added\ngene: FGF10 was added to Radial Ray Abnormalities. Sources: NHS GMS\nMode of inheritance for gene: FGF10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGF10 were set to PMID: 15654336; 16501574; 16630169; 17682060\nPhenotypes for gene: FGF10 were set to Lacrimoauriculodentodigital syndrome (149730); Aplasia of lacrimal and salivary glands (180920)\nReview for gene: FGF10 was set to GREEN\nAdded comment: Multiple unrelated individuals with heterozygous variants reported in association with LADD syndrome, which manifests variable radial ray features. Allelic condition: aplasia of lacrimal and salivary glands. \nSources: NHS GMS","entity_name":"FGF10","entity_type":"gene"},{"created":"2020-07-22T17:09:43.135300+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B4GALNT1 as ready","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-07-22T17:09:43.126831+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b4galnt1 has been classified as Green List (High Evidence).","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-07-22T17:09:40.344359+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: B4GALNT1 were changed from  to Spastic paraplegia 26, autosomal recessive (MIM #609195)","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-07-22T17:09:14.756294+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: B4GALNT1 were set to ","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-07-22T17:04:12.535037+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: B4GALNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"B4GALNT1","entity_type":"gene"},{"created":"2020-07-22T17:00:12.151737+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.11","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome (MIM#227810); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC2A2","entity_type":"gene"},{"created":"2020-07-22T16:59:23.996554+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.11","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28224773, 31508908, 32005221; Phenotypes: Glycogen storage disease Ib (MIM#232220), Glycogen storage disease Ic (MIM#232240); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2020-07-22T16:58:31.227186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3450","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: COG2: Rating: RED; Mode of pathogenicity: None; Publications: 24784932; Phenotypes: Congenital disorder of glycosylation, type IIq (MIM# 617395); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T16:57:53.365778+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COG2 as ready","entity_name":"COG2","entity_type":"gene"},{"created":"2020-07-22T16:57:53.354923+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cog2 has been classified as Red List (Low Evidence).","entity_name":"COG2","entity_type":"gene"}]}