{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1467","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1465","results":[{"created":"2020-12-22T11:00:52.252730+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem165 has been classified as Green List (High Evidence).","entity_name":"TMEM165","entity_type":"gene"},{"created":"2020-12-22T11:00:49.231222+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM165 were changed from  to Congenital disorder of glycosylation, type IIk, MIM# 614727; TMEM165-CDG, MONDO:0013870","entity_name":"TMEM165","entity_type":"gene"},{"created":"2020-12-22T11:00:03.434123+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM165 were set to ","entity_name":"TMEM165","entity_type":"gene"},{"created":"2020-12-22T10:59:33.112968+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM165 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM165","entity_type":"gene"},{"created":"2020-12-22T10:59:03.874859+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM165: Rating: GREEN; Mode of pathogenicity: None; Publications: 22683087, 28323990, 27401145, 27008884, 26238249, 25609749; Phenotypes: Congenital disorder of glycosylation, type IIk, MIM# 614727, TMEM165-CDG, MONDO:0013870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM165","entity_type":"gene"},{"created":"2020-12-22T10:51:48.825916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5763","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia, MIM 269250 to Schneckenbecken dysplasia, MIM 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:51:43.317871+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35D1 were changed from Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) to Schneckenbecken dysplasia 269250, MONDO:0010013; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:51:09.892855+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35D1: Changed phenotypes: Schneckenbecken dysplasia 269250, MONDO:0010013, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:50:41.868890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5762","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35D1 were set to 31423530; 19508970","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:50:17.690345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5761","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:48:57.458395+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35D1 as ready","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:48:57.445318+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35d1 has been classified as Green List (High Evidence).","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:48:54.173457+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35D1 were changed from  to Schneckenbecken dysplasia 269250; O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation)","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:48:26.162890+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35D1 were set to ","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:47:58.276498+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-22T10:47:15.592674+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17952091, 19508970, 31423530; Phenotypes: Schneckenbecken dysplasia 269250, O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35D1","entity_type":"gene"},{"created":"2020-12-21T19:42:11.968890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5761","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35C1 as ready","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:42:11.959758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35c1 has been classified as Green List (High Evidence).","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:41:44.977481+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5761","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35C1 were changed from  to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:41:24.483134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5760","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35C1 were set to ","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:41:05.058008+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5759","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:40:45.879175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5758","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:39:36.988645+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC35C1 as ready","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:39:36.972453+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35c1 has been classified as Green List (High Evidence).","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:39:33.677189+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC35C1 were changed from  to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:39:09.318074+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC35C1 were set to ","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:38:46.778588+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:38:16.703416+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC35C1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11326279, 12116250, 33098347, 32313197, 24403049; Phenotypes: Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC35C1","entity_type":"gene"},{"created":"2020-12-21T19:34:09.570101+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5758","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II , MIM#224100 to Dyserythropoietic anemia, congenital, type II , MIM#224100; Cowden syndrome 7, MIM#\t616858","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:33:03.117795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5757","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC23B were set to 19561605; 19621418","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:32:43.991767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC23B: Changed phenotypes: Dyserythropoietic anemia, congenital, type II , MIM#224100, Cowden syndrome 7, MIM# 616858","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:32:20.119980+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SEC23B: Changed publications: 19561605, 19621418, 26522472","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:31:57.620476+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Over 20 families reported.; to: Bi-allelic variants and anaemia: Over 20 families reported.\r\n\r\nMono-allelic variants: three families reported with heterozygous missense variants, however note these are present in gnomad. In the case of one of the variants, >2,000 hets. LIMITED evidence for disease association.","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:28:23.478662+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEC23B as ready","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:28:23.466800+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sec23b has been classified as Green List (High Evidence).","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:28:18.095275+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEC23B were changed from  to Dyserythropoietic anemia, congenital, type II 224100; COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies)","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:27:50.437873+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEC23B were set to ","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:27:22.145324+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEC23B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:26:50.700863+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEC23B: Rating: GREEN; Mode of pathogenicity: None; Publications: 19561605, 19621418; Phenotypes: Dyserythropoietic anemia, congenital, type II 224100, COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies); Mode of inheritance: None","entity_name":"SEC23B","entity_type":"gene"},{"created":"2020-12-21T19:14:56.234618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNE as ready","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:14:56.223964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gne has been classified as Green List (High Evidence).","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:14:48.416751+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5756","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNE were changed from  to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:14:27.371458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5755","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNE were set to ","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:14:07.028965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5754","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNE was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:13:48.429617+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNE as ready","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:13:48.417798+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gne has been classified as Green List (High Evidence).","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:13:37.253350+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNE were changed from  to Nonaka myopathy 605820; Sialuria MIM#269921; ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:13:02.631864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5753","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:13:00.344862+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNE were set to ","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:12:40.829729+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T19:11:45.803614+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: 12177386, 12473753, 32053088, 29923088, 10356312, 11326336, 11486897, 27142465; Phenotypes: Nonaka myopathy 605820, Sialuria MIM#269921, ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GNE","entity_type":"gene"},{"created":"2020-12-21T18:34:19.746302+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GALNT3 as ready","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:34:19.733967+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: galnt3 has been classified as Green List (High Evidence).","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:34:16.813643+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GALNT3 were changed from  to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:33:47.000787+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GALNT3 were set to ","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:33:16.319262+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:32:46.818904+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALNT3","entity_type":"gene"},{"created":"2020-12-21T18:29:03.817357+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-12-21T18:29:03.806652+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-12-21T18:28:43.711239+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-12-21T18:28:13.573550+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-12-21T18:27:42.799036+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKRP","entity_type":"gene"},{"created":"2020-12-21T18:26:44.798093+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-12-21T18:26:44.789898+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fktn has been classified as Green List (High Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-12-21T18:26:41.665668+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.341","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FKTN were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-12-21T18:26:05.617023+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.340","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-12-21T18:25:36.276302+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FKTN","entity_type":"gene"},{"created":"2020-12-21T18:14:24.323222+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXT2 as ready","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:14:24.314138+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext2 has been classified as Green List (High Evidence).","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:14:22.012964+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.339","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXT2 were changed from  to Seizures, scoliosis, and macrocephaly syndrome 616682; Exostoses, multiple, type 2 133701; Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:13:51.165140+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXT2 were set to ","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:13:21.019298+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXT2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:12:51.450193+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30288735, 30075207, 26246518; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome 616682, Exostoses, multiple, type 2 133701, Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:10:49.182367+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3329","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXT2 were set to ","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:10:10.681413+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3328","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXT2: Changed publications: 30288735, 30075207, 26246518","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:08:50.400642+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5753","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXT2 as ready","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:08:50.392333+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5753","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext2 has been classified as Green List (High Evidence).","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:08:41.961653+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5753","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:08:21.171735+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5752","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EXT2: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EXT2","entity_type":"gene"},{"created":"2020-12-21T18:06:26.788422+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXT1 as ready","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T18:06:26.775754+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ext1 has been classified as Green List (High Evidence).","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T18:06:23.115272+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXT1 were changed from  to Exostoses, multiple, type 1 133700; Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T18:06:01.239332+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXT1 were set to ","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T18:05:32.559705+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T18:05:02.574756+11:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 9521425; Phenotypes: Exostoses, multiple, type 1 133700, Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EXT1","entity_type":"gene"},{"created":"2020-12-21T17:58:53.962047+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBL1X as ready","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:58:53.952019+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbl1x has been classified as Green List (High Evidence).","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:58:39.503928+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBL1X as Green List (high evidence)","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:58:39.486908+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbl1x has been classified as Green List (High Evidence).","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:58:25.958673+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBL1X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:56:49.581528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5752","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBL1X as ready","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:56:49.570889+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbl1x has been classified as Green List (High Evidence).","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:56:38.928020+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5752","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBL1X as Green List (high evidence)","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:56:38.917150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5752","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbl1x has been classified as Green List (High Evidence).","entity_name":"TBL1X","entity_type":"gene"},{"created":"2020-12-21T17:54:23.733883+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHSY1 as ready","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-12-21T17:54:23.725468+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chsy1 has been classified as Green List (High Evidence).","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-12-21T17:54:17.742351+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHSY1 as Green List (high evidence)","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-12-21T17:54:17.729390+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chsy1 has been classified as Green List (High Evidence).","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-12-21T17:53:46.308327+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHSY1 was added\ngene: CHSY1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHSY1 were set to 21129728; 21129727; 24269551\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)\nReview for gene: CHSY1 was set to GREEN\nAdded comment: Skeletal anomalies, dysmorphic features and deafness. More than 5 unrelated families reported. \nSources: Expert Review","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-12-21T17:52:16.204168+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHSY1 were changed from Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) to Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533; CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)","entity_name":"CHSY1","entity_type":"gene"}]}