{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1681","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1679","results":[{"created":"2020-08-09T17:29:58.002042+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome\t, MIM#241800","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-09T17:29:24.370089+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800","entity_name":"SMO","entity_type":"gene"},{"created":"2020-08-09T16:58:37.647570+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX10 as ready","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:58:37.637646+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:58:35.188215+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX10 were changed from  to Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:58:06.983596+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:57:22.056356+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PEX10 as Red List (low evidence)","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:57:22.039407+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex10 has been classified as Red List (Low Evidence).","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:56:12.161937+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), MIM# 614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PEX10","entity_type":"gene"},{"created":"2020-08-09T16:53:00.114089+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP4 as ready","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:53:00.094563+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp4 has been classified as Red List (Low Evidence).","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:52:57.073184+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP4 were changed from  to Nephronophthisis 4, MIM# 606966; Senior-Loken syndrome 4, MIM# 606996","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:52:39.160971+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:52:19.242055+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPHP4 as Red List (low evidence)","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:52:19.231687+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp4 has been classified as Red List (Low Evidence).","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:51:51.707960+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966, Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP4","entity_type":"gene"},{"created":"2020-08-09T16:49:39.369875+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP3 as ready","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:49:39.360950+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp3 has been classified as Green List (High Evidence).","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:49:31.441223+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP3 were changed from  to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:49:12.365796+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPHP3 were set to ","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:48:28.790855+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:48:06.098109+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18371931, 20007846, 32341812; Phenotypes: Renal-hepatic-pancreatic dysplasia 1, MIM# 208540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP3","entity_type":"gene"},{"created":"2020-08-09T16:44:24.175382+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPHP1 as ready","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:44:24.167266+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp1 has been classified as Red List (Low Evidence).","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:44:22.082776+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPHP1 were changed from  to Joubert syndrome 4 609583; Nephronophthisis 1, juvenile ,MIM# 256100; Senior-Loken syndrome-1 , MIM#266900","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:43:55.986219+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPHP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:43:34.585887+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPHP1 as Red List (low evidence)","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:43:34.576737+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nphp1 has been classified as Red List (Low Evidence).","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:43:12.742653+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPHP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 4 609583, Nephronophthisis 1, juvenile ,MIM# 256100, Senior-Loken syndrome-1 , MIM#266900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPHP1","entity_type":"gene"},{"created":"2020-08-09T16:36:28.408085+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5B as ready","entity_name":"MYO5B","entity_type":"gene"},{"created":"2020-08-09T16:36:28.399335+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5b has been classified as Green List (High Evidence).","entity_name":"MYO5B","entity_type":"gene"},{"created":"2020-08-09T16:36:25.223280+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYO5B as Green List (high evidence)","entity_name":"MYO5B","entity_type":"gene"},{"created":"2020-08-09T16:36:25.215024+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5b has been classified as Green List (High Evidence).","entity_name":"MYO5B","entity_type":"gene"},{"created":"2020-08-09T16:36:03.098800+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO5B was added\ngene: MYO5B was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO5B were set to 28027573; 27532546\nPhenotypes for gene: MYO5B were set to Cholestasis; Microvillus inclusion disease, MIM#251850\nReview for gene: MYO5B was set to GREEN\nAdded comment: Cholestasis has been reported in association with microvillus inclusion disease, but PMID: 28027573 and PMID: 27532546 also report cholestasis with normal or low γ‐glutamyltransferase activity, without diarrhoea, in a total of 13 unrelated individuals with biallelic variants in MYO5B. The youngest proband presented at 2 days of age, although in most cases the onset of symptoms was at more than one month of age. \nSources: Expert list","entity_name":"MYO5B","entity_type":"gene"},{"created":"2020-08-09T13:58:29.180932+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MVK as ready","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:58:29.172471+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mvk has been classified as Red List (Low Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:58:24.253597+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MVK were changed from  to Mevalonic aciduria, MIM# 610377","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:50:01.887175+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:49:35.828041+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MVK as Red List (low evidence)","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:49:35.819642+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mvk has been classified as Red List (Low Evidence).","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:49:12.674937+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MVK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria, MIM# 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MVK","entity_type":"gene"},{"created":"2020-08-09T13:44:38.654344+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPV17 as ready","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-09T13:44:38.645244+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpv17 has been classified as Green List (High Evidence).","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-09T13:44:35.881665+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPV17 were changed from  to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-09T13:44:13.933685+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-09T13:43:46.330695+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPV17","entity_type":"gene"},{"created":"2020-08-09T13:41:37.529407+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPI as ready","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:41:37.512996+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Amber List (Moderate Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:38:50.873790+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPI were changed from  to Congenital disorder of glycosylation, type Ib, MIM# 602579","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:38:28.738503+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPI was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:38:04.869467+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPI as Amber List (moderate evidence)","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:38:04.861359+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpi has been classified as Amber List (Moderate Evidence).","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:37:42.551349+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPI: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib, MIM# 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPI","entity_type":"gene"},{"created":"2020-08-09T13:34:53.781310+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKS1 as ready","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:34:53.770690+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Red List (Low Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:34:46.373131+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MKS1 were changed from  to Meckel syndrome 1, MIM# 249000","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:34:22.302148+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MKS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:33:58.922900+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MKS1 as Red List (low evidence)","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:33:58.914804+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mks1 has been classified as Red List (Low Evidence).","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:33:37.574553+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MKS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 1, MIM# 249000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-08-09T13:27:59.796364+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LIPA as ready","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:27:59.787947+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipa has been classified as Amber List (Moderate Evidence).","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:27:56.200996+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LIPA were changed from  to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:27:34.525519+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:27:02.686493+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LIPA as Amber List (moderate evidence)","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:27:02.678043+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lipa has been classified as Amber List (Moderate Evidence).","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:26:40.082946+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LIPA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholesteryl ester storage disease, MIM# 278000, Wolman disease, MIM# 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPA","entity_type":"gene"},{"created":"2020-08-09T13:24:47.832847+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARS as Amber List (moderate evidence)","entity_name":"LARS","entity_type":"gene"},{"created":"2020-08-09T13:24:47.822930+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Amber List (Moderate Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-08-09T13:24:21.124368+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Six unrelated families reported in the literature, reviewed in PMID: 30349989.; to: Six unrelated families reported in the literature, reviewed in PMID: 30349989. However, presenting phenotype is that of liver failure rather than cholestasis.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-08-09T13:23:59.092253+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LARS: Changed rating: AMBER","entity_name":"LARS","entity_type":"gene"},{"created":"2020-08-09T13:19:03.264232+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INVS as ready","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:19:03.253528+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: invs has been classified as Red List (Low Evidence).","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:19:00.738081+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INVS were changed from  to Nephronophthisis 2, infantile, MIM# 602088","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:18:40.440341+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: INVS were set to ","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:18:16.624618+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INVS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:17:55.920023+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: INVS as Red List (low evidence)","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:17:55.911677+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: invs has been classified as Red List (Low Evidence).","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:17:33.333298+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INVS: Rating: RED; Mode of pathogenicity: None; Publications: 10421642; Phenotypes: Nephronophthisis 2, infantile, MIM# 602088; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"INVS","entity_type":"gene"},{"created":"2020-08-09T13:15:36.166721+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: IARS.","entity_name":"IARS","entity_type":"gene"},{"created":"2020-08-09T13:14:27.735069+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IARS were set to 27426735","entity_name":"IARS","entity_type":"gene"},{"created":"2020-08-09T13:13:58.646770+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IARS as Amber List (moderate evidence)","entity_name":"IARS","entity_type":"gene"},{"created":"2020-08-09T13:13:58.638867+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars has been classified as Amber List (Moderate Evidence).","entity_name":"IARS","entity_type":"gene"},{"created":"2020-08-09T13:13:32.537584+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 27426735, 27891590; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IARS","entity_type":"gene"},{"created":"2020-08-09T13:07:32.961806+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HNF1B as ready","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:07:32.951693+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hnf1b has been classified as Green List (High Evidence).","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:07:30.098582+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HNF1B were changed from  to Renal cysts and diabetes syndrome, MIM# 137920","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:07:08.747735+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HNF1B were set to ","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:06:51.958290+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:06:25.260667+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28324003, 29727438, 30791938, 25741167; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HNF1B","entity_type":"gene"},{"created":"2020-08-09T13:02:14.754839+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3735","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: HFE2.","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:02:04.194256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3735","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HFE2 as ready","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:02:04.184050+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3735","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hfe2 has been classified as Green List (High Evidence).","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:01:58.379601+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3735","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HFE2 were changed from  to Hemochromatosis, type 2A, MIM# 602390","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:01:39.798773+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3734","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HFE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:01:23.988690+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3733","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HFE2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 2A, MIM# 602390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:00:29.969603+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HFE2 as ready","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:00:29.964553+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is HJV.","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:00:29.927893+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hfe2 has been classified as Green List (High Evidence).","entity_name":"HFE2","entity_type":"gene"},{"created":"2020-08-09T13:00:16.260464+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: HFE2.","entity_name":"HFE2","entity_type":"gene"}]}