{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1716","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1714","results":[{"created":"2020-07-23T11:16:15.223987+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: RPS29: Two families reported in 2014, none since.","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:10:11.266053+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPS29 as ready","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:10:11.255273+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps29 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:10:06.537098+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPS29 were changed from  to Diamond-Blackfan anemia 13, MIM# 615909","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:09:42.976938+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPS29 were set to ","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:09:19.990198+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPS29 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:08:59.605263+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPS29 as Amber List (moderate evidence)","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:08:59.596369+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rps29 has been classified as Amber List (Moderate Evidence).","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:08:35.736403+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPS29: Changed rating: AMBER","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:08:29.629203+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RPS29: Rating: ; Mode of pathogenicity: None; Publications: 24829207; Phenotypes: Diamond-Blackfan anemia 13, MIM# 615909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-07-23T11:04:35.238507+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SF3B4 as ready","entity_name":"SF3B4","entity_type":"gene"},{"created":"2020-07-23T11:04:35.227705+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b4 has been classified as Green List (High Evidence).","entity_name":"SF3B4","entity_type":"gene"},{"created":"2020-07-23T11:04:31.321817+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SF3B4 as Green List (high evidence)","entity_name":"SF3B4","entity_type":"gene"},{"created":"2020-07-23T11:04:31.311812+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sf3b4 has been classified as Green List (High Evidence).","entity_name":"SF3B4","entity_type":"gene"},{"created":"2020-07-23T11:04:04.997200+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SF3B4 was added\ngene: SF3B4 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SF3B4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SF3B4 were set to 22541558\nPhenotypes for gene: SF3B4 were set to Acrofacial dysostosis 1, Nager type, MIM#\t154400\nReview for gene: SF3B4 was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are a key feature. \nSources: Expert list","entity_name":"SF3B4","entity_type":"gene"},{"created":"2020-07-23T09:55:08.944753+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHOX as ready","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-07-23T09:55:08.933358+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shox has been classified as Green List (High Evidence).","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-07-23T09:55:00.475884+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SHOX as Green List (high evidence)","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-07-23T09:55:00.464989+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shox has been classified as Green List (High Evidence).","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-07-23T09:54:34.046285+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SHOX was added\ngene: SHOX was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SHOX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SHOX were set to Leri-Weill dyschondrosteosis, MIM# 127300; Langer mesomelic dysplasia, MIM#249700\nReview for gene: SHOX was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are a key feature. \nSources: Expert list","entity_name":"SHOX","entity_type":"gene"},{"created":"2020-07-23T09:49:39.238086+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: UBE2T.","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:48:45.499778+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC1A as ready","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-07-23T09:48:45.488784+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-07-23T09:48:41.295541+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMC1A as Green List (high evidence)","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-07-23T09:48:41.285694+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc1a has been classified as Green List (High Evidence).","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-07-23T09:48:17.863907+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC1A was added\ngene: SMC1A was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: SMC1A were set to Cornelia de Lange syndrome 2, MIM#\t300590\nReview for gene: SMC1A was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. XLD. \nSources: Expert list","entity_name":"SMC1A","entity_type":"gene"},{"created":"2020-07-23T09:39:06.136513+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMC3: Changed publications: 25125236, 25655089; Changed phenotypes: Cornelia de Lange syndrome 3, MIM# 610759","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:38:58.542710+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMC3 as ready","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:38:58.532649+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:38:54.958226+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SMC3 were set to 25125236","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:37:24.929755+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMC3 as Green List (high evidence)","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:37:24.921092+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smc3 has been classified as Green List (High Evidence).","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:37:02.826583+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMC3 was added\ngene: SMC3 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMC3 were set to 25125236\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#\t610759\nReview for gene: SMC3 was set to GREEN\nAdded comment: Well established gene-disease association, radial ray abnormalities are part of the phenotype. \nSources: Expert list","entity_name":"SMC3","entity_type":"gene"},{"created":"2020-07-23T09:34:25.288656+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBE2T as ready","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:34:25.277625+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ube2t has been classified as Green List (High Evidence).","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:34:20.989164+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UBE2T as Green List (high evidence)","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:34:20.979060+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ube2t has been classified as Green List (High Evidence).","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:33:55.139795+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE2T was added\ngene: UBE2T was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE2T were set to 26046368; 26085575; 26119737\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM#\t616435\nReview for gene: UBE2T was set to GREEN\nAdded comment: At least three families reported, including with radial ray abnormalities. Note some of the variants are CNVs. \nSources: Expert list","entity_name":"UBE2T","entity_type":"gene"},{"created":"2020-07-23T09:30:32.954049+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT7A as ready","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-07-23T09:30:32.942914+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7a has been classified as Green List (High Evidence).","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-07-23T09:30:29.172350+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT7A as Green List (high evidence)","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-07-23T09:30:29.162164+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt7a has been classified as Green List (High Evidence).","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-07-23T09:30:04.104545+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WNT7A was added\ngene: WNT7A was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT7A were set to 21344627; 20949531; 16826533\nPhenotypes for gene: WNT7A were set to Fuhrmann syndrome, MIM#\t228930; Ulna and fibula, absence of, with severe limb deficiency, MIM#\t276820\nReview for gene: WNT7A was set to GREEN\nAdded comment: Although WNT7A-related conditions cause ulnar abnormalities, include in this panel due to phenotypic overlap (single forearm bone may be difficult to distinguish, particularly in non-specialist setting). \nSources: Expert list","entity_name":"WNT7A","entity_type":"gene"},{"created":"2020-07-23T09:25:08.951411+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZIC3 as ready","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-23T09:25:08.939882+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic3 has been classified as Green List (High Evidence).","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-23T09:25:00.072303+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZIC3 as Green List (high evidence)","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-23T09:25:00.057023+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zic3 has been classified as Green List (High Evidence).","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-23T09:24:34.787800+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZIC3 was added\ngene: ZIC3 was added to Radial Ray Abnormalities. Sources: Expert list\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZIC3 were set to 21465648; 20452998; 26294094\nPhenotypes for gene: ZIC3 were set to VACTERL association, X-linked\t314390\nReview for gene: ZIC3 was set to GREEN\nAdded comment: Several families reported with VACTERL-H association, gene is also linked to laterality defects and isolated congenital heart disease. \nSources: Expert list","entity_name":"ZIC3","entity_type":"gene"},{"created":"2020-07-23T07:54:40.292975+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3473","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UMOD","entity_type":"gene"},{"created":"2020-07-23T07:54:22.560020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3472","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UMOD: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UMOD","entity_type":"gene"},{"created":"2020-07-23T07:43:28.958032+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MUC1 as ready","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:43:28.947251+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: muc1 has been classified as Green List (High Evidence).","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:43:22.291640+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MUC1 were changed from  to Medullary cystic kidney disease 1, MIM# 174000","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:42:59.820266+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MUC1 were set to ","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:42:37.242307+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:42:09.507016+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23396133; Phenotypes: Medullary cystic kidney disease 1, MIM# 174000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MUC1","entity_type":"gene"},{"created":"2020-07-23T07:39:55.820893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3472","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: REN as ready","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:39:55.809856+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3472","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ren has been classified as Green List (High Evidence).","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:39:47.830305+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3472","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: REN were changed from  to Renal tubular dysgenesis, MIM# 267430; Autosomal dominant tubulointerstitial disease","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:39:29.759430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3471","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: REN were set to ","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:39:11.092119+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3470","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: REN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:38:51.070055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3469","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 16116425, 31586593, 31406136, 28701203, 21473025; Phenotypes: Renal tubular dysgenesis, MIM# 267430, Autosomal dominant tubulointerstitial disease; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:30:14.581667+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: REN as ready","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:30:14.571346+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ren has been classified as Green List (High Evidence).","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:30:05.883117+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: REN were changed from  to Autosomal dominant tubulointerstitial disease","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:29:32.067851+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: REN were set to ","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:29:04.240382+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: REN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-23T07:28:40.125314+10:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: REN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31586593, 31406136, 28701203, 21473025; Phenotypes: Autosomal dominant tubulointerstitial disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"REN","entity_type":"gene"},{"created":"2020-07-22T21:14:13.760378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3469","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-07-22T21:13:55.602082+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3468","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MDH1: Changed phenotypes: epilepsy, microcephaly, intellectual disability, Epileptic encephalopathy, early infantile, 88, MIM#618959","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-07-22T21:13:37.402165+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.760","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MDH1 were changed from epilepsy; microcephaly; intellectual disability to epilepsy; microcephaly; intellectual disability; Epileptic encephalopathy, early infantile, 88, MIM#618959","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-07-22T21:13:07.090628+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.759","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MDH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31538237,; Phenotypes: Epileptic encephalopathy, early infantile, 88, MIM#618959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MDH1","entity_type":"gene"},{"created":"2020-07-22T21:11:13.616293+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3468","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944","entity_name":"IL6R","entity_type":"gene"},{"created":"2020-07-22T21:10:52.600496+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3467","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944","entity_name":"IL6R","entity_type":"gene"},{"created":"2020-07-22T21:10:37.410507+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL6R were changed from Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE to Recurrent pyogenic infections, cold abscesses; High circulating IL-6 levels; High IgE; IgE recurrent infection syndrome, MIM#618944","entity_name":"IL6R","entity_type":"gene"},{"created":"2020-07-22T21:10:02.054215+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IL6R: Changed phenotypes: Recurrent pyogenic infections, cold abscesses, High circulating IL-6 levels, High IgE, IgE recurrent infection syndrome, MIM#618944","entity_name":"IL6R","entity_type":"gene"},{"created":"2020-07-22T20:58:25.235375+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GAA as ready","entity_name":"GAA","entity_type":"gene"},{"created":"2020-07-22T20:58:25.223674+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gaa has been classified as Green List (High Evidence).","entity_name":"GAA","entity_type":"gene"},{"created":"2020-07-22T20:58:22.476024+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GAA were changed from  to Glycogen storage disease II (MIM#232300)","entity_name":"GAA","entity_type":"gene"},{"created":"2020-07-22T20:57:57.609802+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GAA were set to ","entity_name":"GAA","entity_type":"gene"},{"created":"2020-07-22T20:57:36.289474+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAA","entity_type":"gene"},{"created":"2020-07-22T20:56:56.962798+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBCK1 as ready","entity_name":"RBCK1","entity_type":"gene"},{"created":"2020-07-22T20:56:56.947370+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbck1 has been classified as Green List (High Evidence).","entity_name":"RBCK1","entity_type":"gene"},{"created":"2020-07-22T20:55:26.967722+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PYGM from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:55:04.389682+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PYGL from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:54:31.674659+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PRKAG2 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:53:45.839970+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PHKA2 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:53:26.453415+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PGM1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:53:03.876597+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PGK1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:52:30.364112+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PGAM2 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:51:23.482335+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PFKM from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:50:15.717867+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:LDHA from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:49:16.773332+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GYS2 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:48:55.842883+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GYS1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:48:03.151768+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GYG1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:46:44.357704+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GBE1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:45:52.384313+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:G6PC from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:44:57.289155+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ENO3 from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:44:00.830854+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ALDOA from the panel","entity_name":null,"entity_type":null},{"created":"2020-07-22T20:43:13.213966+10:00","panel_name":"Lysosomal Storage Disorder","panel_id":181,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:AGL from the panel","entity_name":null,"entity_type":null}]}